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Academic literature on the topic 'Mucopolysaccharidosi'

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Published: 9 March 2023

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Journal articles on the topic "Mucopolysaccharidosi"

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Kenis, Vladimir M., Leonid V. Gorobets, Alena Yu Dimitrieva, Alisa A. Zhmurova-Kriventsova, Igor O. Bychkov, Galina V. Baydakova, Tatiana V. Markova, and Ekaterina Yu Zakharova. "Mucopolysaccharidosis IVB and sensorineural deafness associated with the CDH23 gene: A unique clinical case." Pediatric Traumatology, Orthopaedics and Reconstructive Surgery 10, no. 3 (September 22, 2022): 285–94. http://dx.doi.org/10.17816/ptors108730.

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BACKROUND: Mucopolysaccharidoses are a group of lysosomal storage diseases belonging to orphan diseases. Certain types of mucopolysaccharides have a typical musculoskeletal findings and radiological changes. The mucopolysaccharidosis IVB is a rare type. Thus, 95% of cases of the mucopolysaccharidosis IV are subtype A. CLINICAL CASE: Сlinical and radiological changes and genetic examination were performed to a 9-year-old patient with sensorineural deafness who applied to a medical institution with complaints of right hip pain and limping. DISCUSSION: Based on complaints and radiological changes of the hip joints, the patient was initially diagnosed with LeggCalvePerthes disease. The presence of a symmetrical bilateral process, pathognomonic changes in the acetabulum and femoral heads, and an atypical clinic of LeggCalvePerthes disease made us suspect mucopolysaccharidos. Enzymatic analysis revealed a significant decrease in the beta-D-galactosidase enzyme activity. In addition, two compound heterozygous variants in the GLB1 gene were identified: the pathogenic variant c.808TG, inherited from the father, and an insertion of a mobile genetic element, inherited from the mother. Only one variant in the GLB1 gene was detected in the brother (born in 2009), and none of the above GLB1 variants was detected in the older brother (born in 2003). Moreover, the proband (with clinical mucopolysaccharidos IVB) and his brother (born in 2009) (without mucopolysaccharidos IVB) inherited pathogenic CDH23 variants (c.6992TC and c.805CT) from their mother and father, respectively, which is consistent with their having sensorineural hearing loss. CONCLUSIONS: The uniqueness of this clinical case is the presence of the rare type of mucopolysaccharidos and the separate genetic cause of sensorineural hearing loss in a single patient. The diagnosis of mucopolysaccharidos IVB in the proband was confirmed by biochemical and molecular genetic tests, and the diagnosis of CDH23-associated sensorineural deafness in the proband and brother (born in 2009) was confirmed by molecular genetic testing.
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MAIER-REDELSPERGER, MICHELINE, MARC-HENRI STERN, and PIERRE MAROTEAUX. "Pink Rings Lymphocyte: A New Cytologic Abnormality Characteristic of Mucopolysaccharidosis Type II (Hunter Disease)." Pediatrics 82, no. 2 (August 1, 1988): 286. http://dx.doi.org/10.1542/peds.82.2.286.

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To the Editor.— Mucopolysaccharidoses are a group of rare hereditary storage disorders characterized by various lysosomal hydrolase deficiencies. Clinical condition, radiologic and ophthalmologic examinations, urinary mucopolysaccharides dosage, and leukocyte morphology are generally sufficient for diagnosis.1 However, a more precise classification may be difficult. We herein describe a new lymphocyte abnormality observed in 9/9 cases of type II (Hunter disease) in only 3/19 cases of other types of mucopolysaccharidoses. Capillary blood was collected from 28 children with mucopolysaccharidosis referred to the pediatric department.
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Al-Mosawi, Aamir Jalal. "Clinical and Radiologic Diagnosis of a Patient with Maroteaux-Lamy Syndrome." Series of Medical Science​ 1, no. 1 (January 13, 2020): 1–5. http://dx.doi.org/10.54178/2771-0629.2020a1.

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Background: Diagnosis of rare diseases or disorders is understandably challenging because it is unfeasible for practicing physicians to make themselves familiar with hundreds of rare diseases. The diagnosis of rare inherited metabolic syndromes such as mucopolysaccharidoses is additionally complicated by the lack of confirmatory sophisticated laboratory tests in many areas of the world. In the more developed countries, the diagnosis of mucopolysaccharidoses depends on urine tests for excessive mucopolysaccharides and enzyme assays. However, these tests are not easily accessible in countries like Iraq, and the diagnosis has to rely on clinical and radiological findings. Case Report: The clinical and radiologic diagnosis of an Iraqi patient with Maroteaux-Lamy syndrome is described. The clinical diagnosis of the girl with early-onset mucopolysaccharidosis and the abnormalities were recognizable before the age of two. The clinical and radiologic diagnosis was Maroteaux-Lamy syndrome because of the absence of mental retardation and the presence of hepatosplenomegaly. Conclusion: Clinical diagnosis of rare metabolic syndromes like mucopolysaccharidoses requires magnificent clinical skills and huge experience because of the similarity between various types of mucopolysaccharidoses.
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Bassyouni, H. T. "Mucopolysaccharidosis type I: clinical and biochemical study." Eastern Mediterranean Health Journal 6, no. 2-3 (June 15, 2000): 359–66. http://dx.doi.org/10.26719/2000.6.2-3.359.

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Of 1240 outpatients referred to the Human Genetics Clinic between 1997 and 1998, 248 [20%]had inborn errors of metabolism, 36 [14%] of which were diagnosed as mucopolysaccharidoses. Parental consanguinity was present in 82% of these patients. Deficiency of alpha-L-iduronidase [IDUA] enzyme in leukocytes and increased urinary mucopolysaccharides excretion were detected in 17 patients. The urinary spot test for glucosaminoglycans was inconclusive in 4 of the 17 cases. Results showed a correlation between the biochemical enzyme activity in leukocytes, the amount of excreted mucopolysaccharides and the subtype and course of mucopolysaccharidosis type I. We conclude that estimation of IDUA enzyme activity in leukocytes can differentiate between clinically overlapping cases of MPS I and MPS II and given the clinical manifestations of MPS I is a definitive and unequivocal method of diagnosis while the urinary spot test is inconclusive
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Baxi, Kalgi, Ashish Jagati, and Pooja Agarwal. "Mucopolysachharidosis-II: A Rare Case Report." Nepal Journal of Dermatology, Venereology & Leprology 18, no. 1 (October 8, 2020): 80–82. http://dx.doi.org/10.3126/njdvl.v18i1.25996.

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Mucopolysaccharidosis belongs to a group of metabolic disorders caused by absence or defective activity of lysosomal enzymes. Mucopolysaccharides are major components of intercellular connective tissue and defect in their metabolism leads to an accumulation of incompletely degraded mucopolysaccharides in the lysosomes which affect various body systems through enzymatic activity. We present a case of mucopolysaccharidosis type II with hallmark cutaneous features, mild mental retardation associated with radiological changes.
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Durkovic, Jasmina. "Diagnostics of mucopolysaccharidoses presented through the case of sanfilippo syndrome." Srpski arhiv za celokupno lekarstvo 132, no. 5-6 (2004): 174–78. http://dx.doi.org/10.2298/sarh0406174d.

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Mucopolysaccharidoses (MPS) are recessive inheritable, progressive diseases of disordered degradation and storage of acid glucos-aminoglycans. A five-year old child with psychomotor development retardation, which started at his age of two, was presented in our study. Clinical examination showed big head with rough facial features, skeleton deformities and hepatosplenomegaly. The diagnosis Dysostosis epifisealis multiplex was also confirmed by the X-ray examination of skeleton. Karyotype: 46, XY. Mental retardation: IQ-48. Clinically suspected mucopolysaccharidosis called for metabolic screening of first morning urine and the positive toluidine blue test result indicated the increased excretion of mucopolysaccharides. Further enzyme analyses of peripheral blood leucocytes confirmed the heparin sulphate sulphatase deficiency on the basis of which A (MPS III) Sanfilippo syndrome was defined. Our patient was born as a twin sibling. The other sibling is clinically healthy and of normal metabolic screening. It was not possible to define precisely the healthy heterozygote by testing the enzyme activities. A large number of mutations at various loci and big genetic heterogeneity of mucopolysaccharidoses made molecular diagnostics difficult. In the subsequent pregnancy, the mother was recommended prenatal diagnostics by enzyme analysis from the cultured chorionic villus. The prognosis of the presented patient is bad, the course of the disease is progressive and the patient can be expected to die in spastic tetraplegia in the second decade of life. The treatment is symptomatic for the time being.
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Gitzelmann, R., N. U. Bosshard, A. Superti-Furga, M. A. Spycher, J. Briner, U. Wiesmann, H. Lutz, and B. Litschi. "Feline Mucopolysaccharidosis VII Due to β-glucuronidase Deficiency." Veterinary Pathology 31, no. 4 (July 1994): 435–43. http://dx.doi.org/10.1177/030098589403100405.

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A male cat 12–14 weeks old had walking difficulties and an enlarged abdomen. Facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, vacuolated lymphocytes, and a positive urine test for sulfated glycosaminoglycans suggested mucopolysaccharidosis. Cultured fibroblasts incorporated 35SO4 into mucopolysaccharides more actively than did fibroblasts of a feline control, and degradation was far inferior. Activity of β-glucuronidase was absent in leukocytes and markedly reduced in fibroblasts, thus establishing the diagnosis of mucopolysaccharidosis VII, a disorder previously described in humans, dogs, and mice. Light microscopic examination revealed foam cells in virtually all organs examined, and electron microscopic examination showed pancytic storage of floccular material characteristic of mucopolysaccharides. Stored sphingolipids in the form of zebra bodies were seen in ganglion cells of the central nervous system and in smooth muscle cells of blood vessels. This case represents another animal model of mucopolysaccharidosis VII with the full disease characteristics known in human patients.
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Kiem Hao, Tran, Nguyen Thi Diem Chi, Nguyen Thi Hong Duc, and Nguyen Thi Kim Hoa. "A case study of three patients with mucopolysaccharidoses in Hue Central Hospital." SAGE Open Medical Case Reports 8 (January 2020): 2050313X2093824. http://dx.doi.org/10.1177/2050313x20938245.

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Mucopolysaccharidosis is a group of rare metabolic disorders characterized by a deficiency of enzymes in the degradation of glycosaminoglycans. The incomplete degradation process leads to the accumulation of glycosaminoglycans in lysosomes of various tissues, which interferes with cell function. We report three cases that were classified as Hurler—Mucopolysaccharidosis I, Morquio—Mucopolysaccharidosis IV A, and Maroteaux–Lamy—Mucopolysaccharidosis VI. Clinical presentations of these cases vary, depending on each type of enzyme defect. All the patients appeared healthy at birth, and symptoms appear at around 1 or 2 years. Clinical features, radiological findings, and especially enzyme assays have allowed us to establish a definitive diagnosis in these cases. These cases highlight that abnormal clinical symptoms, such as growth failure, coarse facial features, and joint problems, are key points for further investigation relating to mucopolysaccharidosis disease. However, in low- and middle-income countries, it is difficult to have a definitive diagnosis of one of the mucopolysaccharidoses due to lacking enzyme assays.
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Patel, Prajay, Georgia Antoniou, Damian Clark, David Ketteridge, and Nicole Williams. "Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis." Journal of Child Neurology 35, no. 6 (March 11, 2020): 410–17. http://dx.doi.org/10.1177/0883073820904481.

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Mucopolysaccharidoses (MPSs) are a group of rare lysosomal storage diseases with multisystem manifestations, including carpal tunnel syndrome (CTS). This study comprised a systematic review of literature and hospital guidelines addressing the method and frequency of screening for carpal tunnel syndrome in mucopolysaccharidosis patients and a review of carpal tunnel syndrome in patients seen in the multidisciplinary mucopolysaccharidosis clinic of a pediatric hospital, in order to develop screening recommendations. The literature reported the importance of routine carpal tunnel syndrome screening from early childhood in patients with mucopolysaccharidosis I, II, IV, and VI. Screening methods included physical examination, nerve conduction studies, electromyography, and ultrasonography. Ten of 20 mucopolysaccharidosis patients in our series underwent carpal tunnel syndrome surgery. Given the high incidence of carpal tunnel syndrome at a young age in mucopolysaccharidosis, the authors recommend performing physical examination and obtaining patient and caregiver history for carpal tunnel syndrome every 6 months from the time of mucopolysaccharidosis diagnosis, supplemented by annual nerve conduction studies in cases with poor history or equivocal examination.
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Wilkerson, M. J., D. C. Lewis, S. L. Marks, and D. J. Prieur. "Clinical and Morphologic Features of Mucopolysaccharidosis Type II in a Dog: Naturally Occurring Model of Hunter Syndrome." Veterinary Pathology 35, no. 3 (May 1998): 230–33. http://dx.doi.org/10.1177/030098589803500311.

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A 5-year-old male Labrador Retriever had progressive incoordination, visual impairment, and exercise intolerance. Coarse facial features, macrodactylia, unilateral corneal dystrophy, generalized osteopenia, progressive neurologic deterioration, and a positive urine spot test for acid mucopolysaccharides suggested mucopolysaccharidosis. Intracytoplasmic vacuoles were most prevalent in epithelial cells, endothelial cells, and histiocytes of liver, kidney, thyroid gland, and spleen. Ultrastructural examination disclosed electron-lucent floccular to lamellar membrane-bound storage material characteristic of mucopolysaccharides. Periodic acid-Schiff-positive intracytoplasmic material was identified in multiple neurons in the medulla, pontine nucleus, cerebellum, and spinal gray matter horns. Biochemical assays identified a deficiency in iduronate-2-sulfatase (IDS) activity in cultured dermal fibroblasts compared with normal dogs. Hair root analysis for IDS showed that the dam was a carrier of X-linked Hunter syndrome and that a phenotypically normal male littermate of the affected dog was normal. This is the first report of Hunter syndrome or mucopolysaccharidosis type II in a dog.
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Dissertations / Theses on the topic "Mucopolysaccharidosi"

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Pereira, Cátia Daniela Isaías. "Lymphocyte populations in Mucopolysaccharidosis patients." Master's thesis, Universidade de Aveiro, 2015. http://hdl.handle.net/10773/15580.

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Mestrado em Biomedicina molecular
As doenças de sobrecarga lisossomal (DSLs) constituem um grupo de distúrbios metabólicos raros maioritariamente causados por mutações em hidrolases lisossomais, que conduzem à acumulação anormal de diferentes substratos macromoleculares no interior do lisossoma. Este trabalho é focado nas mucopolissacaridoses (MPSs), um grupo de DSLs resultantes da atividade deficiente de enzimas envolvidas no catabolismo dos glicosaminoglicanos. A MPS II é caraterizada pela perda de atividade da enzima iduronato-2-sulfatase, levando ao armazenamento intralisossomal de sulfato de dermatano e sulfato de heparano. A MPS VI é definida pela acumulação de sulfato de dermatano dentro do lisossoma, devido a uma deficiência na atividade enzimática de arilsulfatase B. O lisossoma é um compartimento celular importante para o funcionamento normal do sistema imunitário. Em diversos modelos de DSLs, foram anteriormente descritas alterações nas células do sistema imunitário. Os principais objetivos do presente trabalho eram: (i) estudar as várias populações leucocitárias – incluindo células T e seus subconjuntos, células natural killer (NK), células B e suas subpopulações, e monócitos – no sangue periférico de doentes com MPS II e MPS VI; (ii) produzir linhas de células B transformadas pelo vírus Epstein–Barr (EBV) destes pacientes, assim como avaliar a eficácia na sua produção e determinar o seu fenótipo. A caraterização do sistema imunitário nas doenças MPS II e MPS VI revelou um decréscimo significativo na frequência de células NK e monócitos em doentes com MPS VI, mas não em doentes com MPS II, em comparação com indivíduos controle. Em contraste, não foram identificadas alterações na percentagem de células T, células natural killer T invariantes (iNKT) e células B nos grupos de doentes com MPS II e MPS VI, comparando com o grupo controlo. A análise detalhada do estado de memória de células T auxiliares e células T citotóxicas revelou desequilíbrios nos fenótipos naïve e de memória em ambos os compartimentos de células T em doentes com MPS VI, mas não em doentes com MPS II, em comparação com indivíduos controle. As linhas de células B transformadas pelo EBV foram produzidas com sucesso nos dois grupos de doentes com MPS, mas a eficácia na sua produção foi superior no caso dos doentes com MPS VI, comparando com os indivíduos controle e doentes com MPS II. O fenótipo predominante das linhas de células B transformadas pelo EBV era similar entre ambos os grupos de doentes com MPS e o grupo controlo, o qual foi avaliado como sendo correspondente à subpopulação de células B de memória duplamente negativas. Em conclusão, este trabalho permitiu caraterizar melhor o sistema imunitário nestas duas doenças raras.
Lysosomal storage diseases (LSDs) constitute a group of rare metabolic disorders mostly caused by mutations in lysosomal hydrolases, which conduce to abnormal accumulation of different macromolecular substrates inside the lysosome. This work is focused on the mucopolysaccharidoses (MPSs), a group of LSDs arising from the deficient activity of enzymes involved in the catabolism of glycosaminoglycans. The MPS II is characterized by loss of activity of the enzyme iduronate-2-sulfatase, leading to the intralysosomal storage of dermatan sulfate and heparan sulfate. The MPS VI is defined by the accumulation of dermatan sulfate within the lysosome, owing to a deficiency in the enzymatic activity of arylsulfatase B. The lysosome is an important cellular compartment for the normal functioning of the immune system. In several models of LSDs, alterations in the immune system cells were previously described. The main aims of the present work were: (i) to study the various leukocyte populations – including T cells and their subsets, natural killer (NK) cells, B cells and their subpopulations, and monocytes – in the peripheral blood of MPS II and MPS VI patients; (ii) to produce Epstein–Barr virus (EBV)- -transformed B cell lines from these patients, as well as to evaluate the efficacy in their generation and determine their phenotype. The characterization of the immune system in MPS II and MPS VI diseases revealed a significant decrease in the frequency of NK cells and monocytes in MPS VI patients, but not in MPS II patients, in comparison with control subjects. In contrast, no alterations were identified in the percentage of T cells, invariant natural killer T (iNKT) cells, and B cells in the groups of MPS II and MPS VI patients comparing with the control group. The detailed analysis of the memory state of helper T cells and cytotoxic T cells revealed imbalances in the naïve and memory phenotypes in both T cell compartments in MPS VI patients, but not in MPS II patients, as compared with control subjects. The EBV-transformed B cell lines were successfully produced in the two MPS patient groups, but the efficacy in their generation was higher in the case of MPS VI patients when comparing with control subjects and MPS II patients. The predominant phenotype of EBV-transformed B cell lines was similar between both groups of MPS patients and the control group, which was assessed as corresponding to the double-negative memory B cell subpopulation. In conclusion, this work allowed to better characterize the immune system in these two rare diseases.
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Kesenheimer, Johannes. "Diagnostik der Mucopolysaccharidose IV – Morquio Syndrom." Diss., lmu, 2012. http://nbn-resolving.de/urn:nbn:de:bvb:19-146349.

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Lutzko, Carolyn Mary. "Gene therapy for canine mucopolysaccharidosis type I." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk1/tape7/PQDD_0006/NQ41221.pdf.

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Litjens, Tom. "The molecular genetics of mucopolysaccharidosis type VI /." Title page, contents and abstract only, 1994. http://web4.library.adelaide.edu.au/theses/09PH/09phl776.pdf.

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Scott, Hamish Steele. "The molecular genetics of mucopolysaccharidosis type I /." Title page, contents and summary only, 1992. http://web4.library.adelaide.edu.au/theses/09PH/09phs426.pdf.

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Lopes, Nuno Duarte Ribeiro. "iNKT cells in mucopolysaccharidosis type II patients." Master's thesis, Universidade de Aveiro, 2013. http://hdl.handle.net/10773/11621.

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Mestrado em Biomedicina Molecular
A Mucopolissacaridose tipo II (MPS II) é uma Doença de Sobrecarga Lisossomal (LSD) pertencente às mucopolissacaridoses. É caracterizada pela acumulação de sulfato de heparan e dermatan devido à deficiência na enzima lisossomal Iduronato 2-Sulfatase. O lisossoma é um compartimento importante para a atividade dos linfócitos iNKT (iNKT). Os linfócitos iNKT são linfócitos T restritos a lípidos envolvidos na infeção, autoimunidade e vigilância tumoral. Estudos anteriores em modelos de murganhos de LSDs demonstraram uma redução do número de linfócitos iNKT assim como alterações nas subpopulações de linfócitos iNKT. Apesar destes resultados, investigação similar em doentes humanos foi ainda pouco abordada. Aqui, analisamos pela primeira vez os linfócitos iNKT de doentes com MPS II. Os dados foram recolhidos através da análise por citometria de fluxo de Células Mononucleares do Sangue Periférico de doentes com MPS II. Os doentes com MPS II não apresentavam diferenças nos linfócitos iNKT totais nem nas subpopulações de linfócitos iNKT. Fenotipicamente, não foram encontradas, nestas células, alterações na expressão de marcadores de ativação e de linfócitos NK. Uma vez que a ativação de linfócitos iNKT requer o funcionamento do lisossoma das células apresentadoras de antigénios, analisámos as suas frequências e fenótipos. Foram encontradas reduções significativas nos monócitos de doentes e não foram encontradas alterações nas restantes células. Não foram encontradas alterações fenotípicas nas células apresentadoras de antigénios. A comparação dos resultados apresentados nesta tese com os resultados previamente obtidos no nosso laboratório para outras LSD sugere que o desenvolvimento dos linfócitos iNKT é influenciado pela natureza das moléculas acumuladas. Descrevemos ainda pela primeira vez alterações na percentagem de monócitos no sangue de doentes com MPS II.
Mucopolysaccharidosis type II (MPS II) is a Lysosomal Storage Disorder (LSD) belonging to the group of mucopolysaccharidoses. It is characterised by the accumulation of heparan and dermatan sulfate due to deficiency of the lysosomal enzyme Iduronate 2-Sulfatase. The lysosome is an important compartment for the activity of invariant Natural Killer T cells (iNKT). iNKT cells are lipid-specific T cells that were shown to be important in infection, autoimmunity and tumour surveillance. Previous studies in mouse models of LSDs have shown a decrease in iNKT cell numbers and alterations in iNKT cell subsets. In spite of these findings, similar research in human patients has been poorly addressed. Herein, we analysed for the first time iNKT cells from Mucopolysaccharidosis type II patients. Data was acquired through flow cytometry analysis of Peripheral Blood Mononuclear Cells from MPS II patients. MPS II patients did not present differences in total iNKT cells neither in iNKT cell subsets. Phenotypically, no differences have been found in the expression of activation and NK cells markers. Since iNKT cell activation requires a functioning lysosome of antigen presenting cells, we analysed their frequency and phenotype. We have found a significant reduction in monocytes from patients and no differences in the other cells. Furthermore, no phenotypical alterations have been found in antigen presenting cells. The comparison of the results presented in this thesis with the results previously obtained by our laboratory in other LSD suggests that iNKT cell development is influenced by the nature of the accumulated molecules. We also described for the first time alterations in the percentage of monocytes in the peripheral blood of MPS II patients.
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PARIS, ERIC. "Circonstances inhabituelles du diagnostic des mucopolysaccharidoses." Rennes 1, 1993. http://www.theses.fr/1993REN1M058.

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Maia, Maria da Luz Galante. "Lipid specific T cells in Mucopolysaccharidosis VI patients." Master's thesis, Universidade de Aveiro, 2012. http://hdl.handle.net/10773/10388.

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Mestrado em Biologia Molecular e Celular
Doenças de sobrecarga lisossomal (DSL) são um grupo de doenças metabólicas hereditárias causadas pela acumulação de moléculas não degradadas nos lisossomas, devido sobretudo a defeitos em enzimas lisossomais. Mucopolissacaridoses são DSL caracterizadas pela acumulação de glicosaminoglicanos anteriormente designados mucopolissacarídeos. O foco deste trabalho é a Mucopolissacaridose tipo VI (MPS VI), que resulta da defeciência de uma hidrolase lisossomal (Arylsulfatase B) responsável pela degradação do sulfato de dermatan, o que leva á acumulação desta macromolécula nos doentes. O lisossoma é um organelo importante na apresentação de antigénios lipídicos ás células T. A apresentação de antigénios lipídicos é mediada por moléculas CD1 existentes nas células apresentadoras de antigénios. A ligação do antigénio lipídico ás moléculas CD1 das células apresentadoras leva á activação das células T restritas a CD1 (NKT). Existem cinco isoformas de moléculas CD1 (a, b, c, d, e), mas apenas quatro são capazes de apresentar antigénios (a, b, c, d). Um dos locais na célula onde a associação das moléculas CD1 com os antigénios lipídicos ocorre é o lisossoma, portanto a apresentação de antigénios lipídicos pode estar afectada em doentes com DSL. Células NKT são um grupo heterogéneo de células T que partilham propriedades das células T e das células natural killer . Em humanos existem três subpopulações de células iNKT dependendo da expressão de CD4 e CD8: CD4+ (apenas expressam CD4), CD8+ (apenas expressam CD8) e duplas negativas (DN) que não expressam nenhumas das duas moléculas. Em estudos prévios foi observado em modelos animais de várias DSL uma diminuição na percentagem de células iNKT. Em doentes de Fabry e Gaucher não foram encontradas alteraçoes. O objectivo deste trabalho é estudar os linfócitos incluindo as células iNKT, as células dendríticas (como células apresentadoras de antigénios) e apresentação de antigénios lipídicos em doentes com MPS VI. Não foram encontradas alterações na percentagem de células iNKT assim como nas suas subpopulações entre doentes com MPS VI e indivíduos controlos. Curiosamente encontramos um aumento na percentagem de linfócitos B em doentes com MPS VI quando comparados com indivíduos controlo. Para determinar o fenótipo das células dendríticas três doentes foram analisados, encontramos para alguns destes doentes uma diminuição na expressão das moléculas CD1a, CD11c e HLA-DR (MHC-class II), mas para tirar mas conclusões mais doentes precisam ser analisados. Três doentes com MPS VI foram analisados para testar a capacidade das suas células dendríticas apresentarem antigénios lipídicos pela molécula CD1b. Não foram encontradas alterações na capacidade destes doentes apresentarem o antigénio lipídico GM1 pela molécula CD1b. Pela primeira vez foram realizados ensaios de apresentação de antigénios lipídicos em doentes com MPS.
Lysosomal storage diseases (LSD) are a group of hereditary metabolic disorders caused by accumulation of undegraded molecules in the lysosome, mainly due to the impairment of the function of lysosomal enzymes. Mucopolysaccharidoses are LSDs characterized by the accumulation of glycosaminoglycans previously designated Mucopolysaccharides. The focus of this work is the Mucopolysaccharidosis type VI (MPS VI), which is a disorder caused by a deficiency in a lysosomal hydrolase (Arylsulfatase B) responsible for the dermatan sulfate degradation, that leads to an accumulation of this macromolecule in the patients. Lysosome is an important organelle in the presentation of lipid antigen to T cells. Lipid antigen presentation is mediated by CD1 molecules existent in the antigen presenting cells. The binding of lipid antigens and the presenting cells containing CD1 molecules lead to activation of T cells that respond to those molecules. There are five isoforms of CD1 molecules (a, b, c, d, e), but only four are antigen presenting (a, b, c, d). One of the cell locations where the association of the CD1 molecules and lipid antigens occurs is the lysosome, so that means that antigen presentation could be affected in LSDs patients. NKT cells are a heterogeneous group of T cells that share properties with T cells and natural killer cells. In humans there are three subpopulations depending on the expression of CD4 and CD8 molecules: CD4+ (only express CD4), CD8+ (only express CD8) and double negative (DN) that do not express any of them. In previous studies a decrease in the percentage of iNKT cells were observed in mouse models of several LSDs. However in patients with Fabry and Gaucher diseases no alterations were found. The aim of this work is to study the lymphocytes including the iNKT cells, the dendritic cells (as antigen presenting cells) and the lipid antigen presentation in MPS VI patients. We found no alterations in the percentage of the iNKT cells and in their subsets between MPS VI patients and control subjects. Interestingly we found an increase in the percentage of the B lymphocyte population in MPS VI patients when compared with control subjects. For dendritic cells phenotype three patients were analyzed, we found for some of them a decrease of the expression of CD1a, CD11c and HLA-DR (MHC-class II) however, more patients need to be study before conclusions can be drawn. In lipid antigen presenting assays, three patients were tested for the capacity of their dendritic cells to present lipid antigens by CD1b molecule. We found no alterations in patients’ capacity to present the lipid antigen GM1 by CD1b molecule. Studies regarding the lipid antigen presentation were for the first time performed in MPS.
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LLADO, SANTAEULARIA MANEL. "THERAPEUTIC GENOME EDITING IN RETINA AND LIVER." Doctoral thesis, Università degli Studi di Milano, 2020. http://hdl.handle.net/2434/696628.

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In vivo gene therapy with adeno-associated viral (AAV) vectors has been successful at treating several inherited diseases, specifically those caused by loss of function mutations which require transfer of a correct copy of a gene. This would not benefit dominant diseases due to gain of function mutations which produce toxic protein products. In addition, since AAV genomes persist as episomes in target cells, AAV mediated transgene expression might be short lived in tissues where cell proliferation occurs when newborn or after damage, like for example the liver. To overcome these challenges, I have developed AAV-based therapeutic approaches which use genome editing to introduce stable modifications at specific genomic loci. First, an allele-specific approach which targets the Rhodopsin P347S dominant mutation was developed and tested both in vitro and in vivo. I achieved allele-specific targeting of human P347S rhodopsin, which reduced mRNA levels and improved retinal electrical function in a mouse model of autosomal dominant retinitis pigmentosa. Second, I developed a mutation- and homology-independent targeted integration (HITI) approach for gene correction in photoreceptors. I demonstrated feasibility of this approach in mouse and pig photoreceptors using a reporter gene and characterized on-target precision of HITI in the murine rhodopsin locus. I then tested the therapeutic potential of this approach in a mouse model of autosomal dominant retinitis pigmentosa and observed mild and transient improvement of retinal function in treated eyes, which suggests that the levels of editing obtained need optimization. Third, I developed a HITI approach for expressing therapeutic genes from the liver by targeting the albumin locus, which is highly transcribed in hepatocytes. I demonstrated feasibility and efficiency of this approach using a reporter gene, and characterized on-target precision of HITI, as well as off-target integration due to Cas9 cleavage. I then tested the therapeutic potential of the integration of a copy of the human arylsulfatase B (ARSB) gene, which is mutated in a rare lysosomal storage disease, mucopolysaccharidosis type VI (MPS VI), in the albumin locus in the liver of newborn MPSVI mice. I demonstrated that this approach achieves stable expression of ARSB at levels that reduce glucosaminoglycan (GAG) urinary secretion, one of the main readouts of MPSVI phenotype. This stable expression of ARSB is contrary to the decrease of transgene expression observed in neonatal MPSVI mice injected with the same dose of a conventional gene therapy vector, thus overcoming the potential loss of transgene expression caused by hepatocyte proliferation. Overall, I have developed different genome editing approaches for conditions that are inherited as either dominant or recessive. I have tested these approaches in two relevant tissues for gene therapy like retina and liver and shown the potential to provide AAV with persistent transgene expression in proliferating tissues like the newborn liver.
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Chodan, Desmaris Nathalie. "Thérapie génique des atteintes neurologiques dans les mucopolysaccharidoses." Paris 7, 2004. http://www.theses.fr/2004PA077039.

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Books on the topic "Mucopolysaccharidosi"

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National Institutes of Health (U.S.) and National Institute of Neurological Disorders and Stroke (U.S.). Office of Communications and Public Liaison, eds. The mucopolysaccharidoses. Bethesda, Md: U.S. Dept. of Health and Human Services, National Institutes of Health, 2003.

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1935-, Graucob E., ed. Hematologic cytology of storage diseases. Berlin: Springer-Verlag, 1985.

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Liping, Zhang, ed. Nian duo tang di jing ren xiao li. Taibei Xian Xindian Shi: Zheng yi chu ban she, 1996.

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1949-, Lane D. A., Björk Ingemar, and Lindahl Ulf 1939-, eds. Heparin and related polysaccharides. New York: Plenum Press, 1992.

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Balagurunathan, Kuberan, Hiroshi Nakato, and Umesh R. Desai. Glycosaminoglycans: Chemistry and biology. New York: Humana Press, 2014.

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Frawley, Geoff. Mucopolysaccharidoses. Oxford University Press, 2013. http://dx.doi.org/10.1093/med/9780199764495.003.0064.

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The mucopolysaccharidoses (MPS) are a group of seven chronic progressive diseases caused by deficiencies of 11 different lysosomal enzymes required for the catabolism of glycosaminoglycans (GAGs). Hurler syndrome (MPS IH) is an autosomal recessive storage disorder caused by a deficiency of α‎-L-iduronidase. Hunter syndrome (MPS II) is an X-linked recessive disorder of metabolism involving the enzyme iduronate-2-sulfatase. Many of the MPS clinical manifestations have potential anesthetic implications. Significant airway issues are particularly common due to thickening of the soft tissues, enlarged tongue, short immobile neck, and limited mobility of the cervical spine and temporomandibular joints. Spinal deformities, hepatosplenomegaly, airway granulomatous tissue, and recurrent lung infections may inhibit pulmonary function. Odontoid dysplasia and radiographic subluxation of C1 on C2 is common and may cause anterior dislocation of the atlas and spinal cord compression.
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Seipel, Catherine P., and Titilopemi A. O. Aina. Mucopolysaccharidoses. Edited by Erin S. Williams, Olutoyin A. Olutoye, Catherine P. Seipel, and Titilopemi A. O. Aina. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190678333.003.0059.

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Mucopolysaccharidoses are progressive disease processes characterized by deficiencies in lysosomal enzymes required for catabolism of glycosaminoglycans. This leads to the accumulation of glycosaminoglycans (GAGs) in multiple organs and tissue. In particular, the deposition of GAGs in soft tissue, the central nervous system, and the cervical spine have implications for the anesthetic management of these patients. A detailed history and examination, with a focus on cardiopulmonary status and past airway management, is required pre-operatively. Enzyme replacement therapy and, in select cases, hematopoietic stem cell transplantation may modify disease progression. This chapter illustrates the perioperative considerations necessary to care for patients with this uncommon disease.
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Smith, Ashley. Mucopolysaccharidoses. Edited by Kirk Lalwani, Ira Todd Cohen, Ellen Y. Choi, and Vidya T. Raman. Oxford University Press, 2018. http://dx.doi.org/10.1093/med/9780190685157.003.0049.

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Mucopolysaccharidoses (MPS) are a group of genetic diseases that affect connective tissues via lack of key lysosomal enzymes. This deficiency leads to storage of partially degraded glycosaminoglycans that build up in multiple organ systems. There are many types of MPS disorders and each has varying features, expected lifespan, enzyme affected, and resulting clinical effect. All MPS are autosomal recessive except Hunter syndrome, which is X-linked. Because each type has a different enzyme deficiency, each has different comorbidities and unique treatment modalities. These patients require multiple anesthetics for diagnostic and surgical interventions. This chapter discusses treatment ad complication issues regarding MPS.
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Hendriksz, Christian J., and Francois Karstens. Mucopolysaccharidosis in Adults. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0054.

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There are 8 different types of diseases of the mucopolysaccharides, each caused by a deficiency in one of 10 different enzymes involved in the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate within the lysosomes of many different cell types and lead to clinical symptoms and excretion of large amounts of GAGs in the urine. Heritability is autosomal recessive except for MPS type II, which is X-linked. The disorders are chronic and progressive and, although the specific types all have their individual features, they share an abundance of clinical similarities. All involve the musculoskeletal, the cardiovascular, the pulmonary and the central nervous system.
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Wolstenholme, G. E. W., and Maeve O'Connor. Chemistry and Biology of Mucopolysaccharides. Wiley & Sons, Incorporated, John, 2009.

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Book chapters on the topic "Mucopolysaccharidosi"

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Saha, Surajit. "Mucopolysaccharidosis." In Encyclopedia of Ophthalmology, 1–2. Berlin, Heidelberg: Springer Berlin Heidelberg, 2014. http://dx.doi.org/10.1007/978-3-642-35951-4_954-1.

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Saha, Surajit. "Mucopolysaccharidosis." In Encyclopedia of Ophthalmology, 1170–71. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-540-69000-9_954.

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Danos, Olivier, and Jean-Michel Heard. "Mucopolysaccharidosis." In Molecular and Cell Biology of Human Gene Therapeutics, 350–67. Dordrecht: Springer Netherlands, 1995. http://dx.doi.org/10.1007/978-94-011-0547-7_17.

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Hansen, Hans Georg, and Elisabeth Graucob. "Mucopolysaccharidoses." In Hematologic Cytology of Storage Diseases, 18–37. Berlin, Heidelberg: Springer Berlin Heidelberg, 1985. http://dx.doi.org/10.1007/978-3-642-70057-6_4.

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Oette, Mark, Marvin J. Stone, Hendrik P. N. Scholl, Peter Charbel Issa, Monika Fleckenstein, Steffen Schmitz-Valckenberg, Frank G. Holz, et al. "Mucopolysaccharidoses." In Encyclopedia of Molecular Mechanisms of Disease, 1356–60. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_1190.

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van der Knaap, Marjo S., and Jacob Valk. "Mucopolysaccharidoses." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 97–105. Berlin, Heidelberg: Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-03078-3_13.

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Bährle-Rapp, Marina. "mucopolysaccharides." In Springer Lexikon Kosmetik und Körperpflege, 361. Berlin, Heidelberg: Springer Berlin Heidelberg, 2007. http://dx.doi.org/10.1007/978-3-540-71095-0_6716.

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Gooch, Jan W. "Mucopolysaccharides." In Encyclopedic Dictionary of Polymers, 908. New York, NY: Springer New York, 2011. http://dx.doi.org/10.1007/978-1-4419-6247-8_14266.

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Clarke, Lorne A. "Mucopolysaccharidosis I." In Lysosomal Storage Disorders, 389–405. Boston, MA: Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_24.

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Chen, Harold. "Mucopolysaccharidosis 2." In Atlas of Genetic Diagnosis and Counseling, 1–8. New York, NY: Springer New York, 2016. http://dx.doi.org/10.1007/978-1-4614-6430-3_162-2.

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Conference papers on the topic "Mucopolysaccharidosi"

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Ademhan Tural, Dilber, Beste Ozsezen, Birce Sunman, Omer Faruk Ipek, Kubra Kılıc, Nagehan Emiralioglu, Ebru Yalcin, et al. "Polysomnography findings in children with Mucopolysaccharidoses." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.1240.

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Ochirova, Polina, Sergey Ryabykh, and Alexander Gubin. "P425 Surgical management of mucopolysaccharidosis -related spinal deformities." In Faculty of Paediatrics of the Royal College of Physicians of Ireland, 9th Europaediatrics Congress, 13–15 June, Dublin, Ireland 2019. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2019. http://dx.doi.org/10.1136/archdischild-2019-epa.761.

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Kuzenkova, Ludmila M., Liliya A. Osipova, Tatyana V. Podkletnova, Leila S. Namazova-Baranova, Galina V. Kuznetsova, Anait K. Gevorkyan, and Nato M. Vashakmadze. "P63 Subdural hematomas in a boy with mucopolysaccharidosis iiib." In 8th Europaediatrics Congress jointly held with, The 13th National Congress of Romanian Pediatrics Society, 7–10 June 2017, Palace of Parliament, Romania, Paediatrics building bridges across Europe. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2017. http://dx.doi.org/10.1136/archdischild-2017-313273.151.

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Hoffmann, AS, N. Muschol, K. Stumpfe, and C. Betz. "Smell and taste disorders in children with Mucopolysaccharidosis (MPS)." In Abstract- und Posterband – 90. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Digitalisierung in der HNO-Heilkunde. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1686577.

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Sapundzhiev, N., L. Nikiforova, P. Drenakova, D. Petrov, and V. Platikanov. "Perioperative airway management in mucopolysaccharidosis type II: a case report." In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1710458.

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Sapundzhiev, N., L. Nikiforova, P. Drenakova, D. Petrov, and V. Platikanov. "Perioperative airway management in mucopolysaccharidosis type II: a case report." In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1710792.

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Muhlebach, Marianne, and Joseph Muenzer. "Longitudinal bronchoscopy findings in children with mucopolysaccharidosis II (MPS II)." In ERS International Congress 2020 abstracts. European Respiratory Society, 2020. http://dx.doi.org/10.1183/13993003.congress-2020.3525.

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Facchina, Giulia, Alessandro Amaddeo, Sonia Khirani, Genevieve Baujat, Syril James, Sylvain Breton, and Brigitte Fauroux. "Retrospective analysis of sleep breathing disorders in mucopolysaccharidosis type IVA." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa4590.

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Smith, Lachlan J., John T. Martin, Spencer E. Szczesny, Katherine P. Ponder, Mark E. Haskins, and Dawn M. Elliott. "Mucopolysaccharidosis VII and the Developing Lumbar Spine: Consequences for Annulus Fibrosus and Vertebral End Plate Mechanical Properties." In ASME 2009 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2009. http://dx.doi.org/10.1115/sbc2009-206489.

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Mucopolysaccharidosis VII (MPS VII) is a rare pediatric, hereditary disorder characterized by deficient activity of beta-glucuronidase, an enzyme that degrades chondroitin, dermatan and heparan sulfate glycosaminoglycans (GAGs) [1,2]. This deficiency leads to systemic lysosomal accumulation of GAGs, resulting in severely impaired physical and intellectual development, with patients frequently not surviving until adulthood. In the spine, the disease is characterized by poorly formed and aligned vertebral bodies, leading to high incidences of kyphosis and scoliosis [1–3].
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Magalhães, Paulo, Bárbara Silva, Lívia Andrade, and Maria do Carmo Duarte. "Mucopolysaccharidosis type VI: Assessment of functionality, functional capacity and respiratory muscle strength." In Annual Congress 2015. European Respiratory Society, 2015. http://dx.doi.org/10.1183/13993003.congress-2015.pa2802.

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