Articoli di riviste sul tema "Mucopolysaccharidosis Metabolism Disorders"
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Vasilev, Filipp, Aitalina Sukhomyasova e Takanobu Otomo. "Mucopolysaccharidosis-Plus Syndrome". International Journal of Molecular Sciences 21, n. 2 (9 gennaio 2020): 421. http://dx.doi.org/10.3390/ijms21020421.
Testo completoScarpa, Maurizio, Charles Marques Lourenço e Hernán Amartino. "Epilepsy in mucopolysaccharidosis disorders". Molecular Genetics and Metabolism 122 (dicembre 2017): 55–61. http://dx.doi.org/10.1016/j.ymgme.2017.10.006.
Testo completoKaczor-Kamińska, Marta, Kamil Kamiński e Maria Wróbel. "Heparan Sulfate, Mucopolysaccharidosis IIIB and Sulfur Metabolism Disorders". Antioxidants 11, n. 4 (30 marzo 2022): 678. http://dx.doi.org/10.3390/antiox11040678.
Testo completoBaxi, Kalgi, Ashish Jagati e Pooja Agarwal. "Mucopolysachharidosis-II: A Rare Case Report". Nepal Journal of Dermatology, Venereology & Leprology 18, n. 1 (8 ottobre 2020): 80–82. http://dx.doi.org/10.3126/njdvl.v18i1.25996.
Testo completoAlden, Tord D., Hernán Amartino, Amauri Dalla Corte, Christina Lampe, Paul R. Harmatz e Leonardo Vedolin. "Surgical management of neurological manifestations of mucopolysaccharidosis disorders". Molecular Genetics and Metabolism 122 (dicembre 2017): 41–48. http://dx.doi.org/10.1016/j.ymgme.2017.09.011.
Testo completoZapolnik, Paweł, e Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review". International Journal of Molecular Sciences 23, n. 9 (26 aprile 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.
Testo completoZapolnik, Paweł, e Antoni Pyrkosz. "Nanoemulsions as Gene Delivery in Mucopolysaccharidosis Type I—A Mini-Review". International Journal of Molecular Sciences 23, n. 9 (26 aprile 2022): 4785. http://dx.doi.org/10.3390/ijms23094785.
Testo completoZahoor, Muhammad Yasir, Huma Arshad Cheema, Sadaqat Ijaz, Muhammad Nadeem Anjum, Khushnooda Ramzan e Munir Ahmad Bhinder. "Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1". Journal of Pediatric Endocrinology and Metabolism 32, n. 11 (26 novembre 2019): 1221–27. http://dx.doi.org/10.1515/jpem-2019-0188.
Testo completoDe Filippis, Concetta, Barbara Napoli, Laura Rigon, Giulia Guarato, Reinhard Bauer, Rosella Tomanin e Genny Orso. "Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes". Cells 11, n. 1 (31 dicembre 2021): 129. http://dx.doi.org/10.3390/cells11010129.
Testo completoMarsden, Deborah, e Harvey Levy. "Newborn Screening of Lysosomal Storage Disorders". Clinical Chemistry 56, n. 7 (1 luglio 2010): 1071–79. http://dx.doi.org/10.1373/clinchem.2009.141622.
Testo completoSingh, Ankur, Rajniti Prasad e Om Prakash Mishra. "Spectrum of Lysosomal Storage Disorders at Tertiary Centre: Retrospective Case-Record Analysis". Journal of Pediatric Genetics 09, n. 02 (2 gennaio 2020): 087–92. http://dx.doi.org/10.1055/s-0039-3402070.
Testo completoMashima, Ryuichi, Torayuki Okuyama e Mari Ohira. "Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry". International Journal of Molecular Sciences 21, n. 8 (14 aprile 2020): 2704. http://dx.doi.org/10.3390/ijms21082704.
Testo completoDe Pasquale, Valeria, Marianna Caterino, Michele Costanzo, Roberta Fedele, Margherita Ruoppolo e Luigi Michele Pavone. "Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism". International Journal of Molecular Sciences 21, n. 12 (12 giugno 2020): 4211. http://dx.doi.org/10.3390/ijms21124211.
Testo completoEremushkin, M. A., D. I. Otvetchikova, I. N. Otvetchikov e V. A. Kolyshenkov. "Analysis of the Existing Treatment Methods of Musculoskeletal Disorders in Adult Patients with Mucopolysaccharidosis (Literature Review)". Bulletin of Restorative Medicine 99, n. 5 (29 ottobre 2020): 101–6. http://dx.doi.org/10.38025/2078-1962-2020-99-5-101-106.
Testo completoGaffke, Lidia, Zuzanna Szczudło, Magdalena Podlacha, Zuzanna Cyske, Estera Rintz, Jagoda Mantej, Karolina Krzelowska, Grzegorz Węgrzyn e Karolina Pierzynowska. "Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies". Metabolic Brain Disease 37, n. 2 (20 dicembre 2021): 299–310. http://dx.doi.org/10.1007/s11011-021-00892-4.
Testo completoMoskot, Marta, Joanna Jakóbkiewicz-Banecka, Anna Kloska, Ewa Piotrowska, Magdalena Narajczyk e Magdalena Gabig-Cimińska. "The Role of Dimethyl Sulfoxide (DMSO) in Gene Expression Modulation and Glycosaminoglycan Metabolism in Lysosomal Storage Disorders on an Example of Mucopolysaccharidosis". International Journal of Molecular Sciences 20, n. 2 (14 gennaio 2019): 304. http://dx.doi.org/10.3390/ijms20020304.
Testo completoOliveira, Allan Chiaratti de, Amélia Miyashiro Nunes dos Santos, Ana Maria Martins e Vânia D'Almeida. "Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause". Sao Paulo Medical Journal 119, n. 5 (6 settembre 2001): 160–64. http://dx.doi.org/10.1590/s1516-31802001000500002.
Testo completoGul, Rutaba, Sabika Firasat, Mulazim Hussain, Muhammad Tufail, Waheed Ahmad e Kiran Afshan. "Neurological manifestations in Pakistani lysosomal storage disorders patients and molecular characterization of Gaucher disease". Genetika 53, n. 3 (2021): 1017–29. http://dx.doi.org/10.2298/gensr2103017g.
Testo completoStepien, Karolina M., Abigail Methley, Ramona Naicker, Kinza Noman e Cliff Chen. "Implications for neuropsychology assessments in adult mucopolysaccharidosis: A systematic review to inform service development in a large tertiary lysosomal disorders centre". Molecular Genetics and Metabolism 135, n. 2 (febbraio 2022): S116. http://dx.doi.org/10.1016/j.ymgme.2021.11.308.
Testo completoShukla, Praveen, Christopher C. Dvorak, Janel Long-Boyle e Sandhya Kharbanda. "Lower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients". International Journal of Molecular Sciences 21, n. 16 (6 agosto 2020): 5634. http://dx.doi.org/10.3390/ijms21165634.
Testo completoNakamura-Utsunomiya, Akari. "Bone Biomarkers in Mucopolysaccharidoses". International Journal of Molecular Sciences 22, n. 23 (23 novembre 2021): 12651. http://dx.doi.org/10.3390/ijms222312651.
Testo completoRai, Shalu, Deepankar Misra, Akansha Misra, Ankit Jain, Ashish Verma, Dimple Grover e Ayesha Haris. "A novel approach in diagnosing multiple dentigerous cysts using CBCT illustration indicative of Mucopolysaccharidosis VI – a case report". Journal of Medicine and Life 15, n. 4 (aprile 2022): 579–86. http://dx.doi.org/10.25122/jml-2021-0288.
Testo completoAmendum, Paige, Shaukat Khan, Seiji Yamaguchi, Hironori Kobayashi, Yasuhiko Ago, Yasuyuki Suzuki, Betul Celik et al. "Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders". Diagnostics 11, n. 9 (28 agosto 2021): 1563. http://dx.doi.org/10.3390/diagnostics11091563.
Testo completoMoores, C., J. G. Rogers, I. M. Mckenzie e T. C. K. Brown. "Anaesthesia for Children with Mucopolysaccharidoses". Anaesthesia and Intensive Care 24, n. 4 (agosto 1996): 459–63. http://dx.doi.org/10.1177/0310057x9602400408.
Testo completoÇakar, Nafiye Emel, e Pınar Yilmazbaş. "Cases of inborn errors of metabolism diagnosed in children with autism". Ideggyógyászati szemle 74, n. 1-2 (2021): 67–72. http://dx.doi.org/10.18071/isz.74.0067.
Testo completoLeistner, Sandra, e Roberto Giugliani. "A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses". Genetics and Molecular Biology 21, n. 1 (marzo 1998): 163–67. http://dx.doi.org/10.1590/s1415-47571998000100028.
Testo completoBhuiyan, AKM Motiur Rahman, Maftahul Jannat, Md Zilan Miah Sarker, Mohammad Tanvir Islam e Amit Roy Chowdhury. "A 16-year-old Girl with Morquio Syndrome: A Case Report". BIRDEM Medical Journal 8, n. 3 (10 settembre 2018): 266–69. http://dx.doi.org/10.3329/birdem.v8i3.38137.
Testo completoWęsierska, Magdalena, Anna Kloska, Diego L. Medina, Joanna Jakóbkiewicz-Banecka, Magdalena Gabig-Cimińska, Marta Radzińska, Marta Moskot e Marcelina Malinowska. "Cellular and Gene Expression Response to the Combination of Genistein and Kaempferol in the Treatment of Mucopolysaccharidosis Type I". International Journal of Molecular Sciences 23, n. 3 (19 gennaio 2022): 1058. http://dx.doi.org/10.3390/ijms23031058.
Testo completoAlbano, Lilian M. J., Sofia S. M. M. Sugayama, Débora R. Bertola, Carlos E. F. Andrade, Cláudia Y. Utagawa, Flávia Puppi, Helena B. Nader et al. "Clinical and laboratorial study of 19 cases of mucopolysaccharidoses". Revista do Hospital das Clínicas 55, n. 6 (dicembre 2000): 213–18. http://dx.doi.org/10.1590/s0041-87812000000600004.
Testo completoSheikh, Sadaf Saleem, Dipak Kumar Yadav e Ayesha Saeed. "Case Report: Hurler syndrome (Mucopolysaccharidosis Type 1) in a young female patient". F1000Research 9 (15 maggio 2020): 367. http://dx.doi.org/10.12688/f1000research.23532.1.
Testo completoMungai, L. N. Wainaina, C. M. Njeru, L. A. Nyamai e M. Maina. "Mucopolysaccharidosis Type II: A Kenyan Case Series". International Journal of Endocrinology 2021 (22 dicembre 2021): 1–4. http://dx.doi.org/10.1155/2021/2328402.
Testo completoDraïss, Ghizlane, Adil Fouad, Nourddine Rada, Ouafa Hocar, Naima Fdil e Mohamed Bouskraoui. "Infantile GM1-Gangliosidosis Revealed by Slate-Grey Mongolian Spots". Open Pediatric Medicine Journal 9, n. 1 (31 gennaio 2019): 1–4. http://dx.doi.org/10.2174/1874309901909010001.
Testo completoDe Ponti, Giada, Samantha Donsante, Marta Frigeni, Alice Pievani, Alessandro Corsi, Maria Ester Bernardo, Mara Riminucci e Marta Serafini. "MPSI Manifestations and Treatment Outcome: Skeletal Focus". International Journal of Molecular Sciences 23, n. 19 (22 settembre 2022): 11168. http://dx.doi.org/10.3390/ijms231911168.
Testo completoTorres, Danielle de Araujo, Anneliese Lopes Barth, Mariana Pires de Mello Valente, Paulo Pires de Mello e Dafne Dain Gandelman Horovitz. "Otolaryngologists and the Early Diagnosis of Mucopolysaccharidoses: A Cross-Sectional Study". Diagnostics 9, n. 4 (13 novembre 2019): 187. http://dx.doi.org/10.3390/diagnostics9040187.
Testo completoMelit, Lorena Elena, Oana Marginean, Carmen Duicu, Cristina Campean e Maria Oana Marginean. "A RARE CASE OF HUNTER SYNDROME – CASE REPORT". Romanian Journal of Pediatrics 64, n. 1 (31 marzo 2015): 38–41. http://dx.doi.org/10.37897/rjp.2015.1.8.
Testo completoZubaida, Bibi, Hajira Batool, Huma Arshad Cheema, Nadia Waheed e Muhammad Naeem. "Novel IDS Variants Identified in Three Unrelated Pakistani Patients Affected with Mucopolysaccharidosis Type II (Hunter Syndrome)". Human Heredity 84, n. 6 (2019): 279–86. http://dx.doi.org/10.1159/000510065.
Testo completoXia, Haibin, Brian Anderson, Qinwen Mao e Beverly L. Davidson. "Recombinant Human Adenovirus: Targeting to the Human Transferrin Receptor Improves Gene Transfer to Brain Microcapillary Endothelium". Journal of Virology 74, n. 23 (1 dicembre 2000): 11359–66. http://dx.doi.org/10.1128/jvi.74.23.11359-11366.2000.
Testo completoDe Risi, Maria, Michele Tufano, Filomena Grazia Alvino, Maria Grazia Ferraro, Giulia Torromino, Ylenia Gigante, Jlenia Monfregola et al. "Altered heparan sulfate metabolism during development triggers dopamine-dependent autistic-behaviours in models of lysosomal storage disorders". Nature Communications 12, n. 1 (9 giugno 2021). http://dx.doi.org/10.1038/s41467-021-23903-5.
Testo completoConijn, Thirsa, Lotte Haverman, Frits A. Wijburg e Carlijn De Roos. "Reducing posttraumatic stress in parents of patients with a rare inherited metabolic disorder using eye movement desensitization and reprocessing therapy: a case study". Orphanet Journal of Rare Diseases 16, n. 1 (10 marzo 2021). http://dx.doi.org/10.1186/s13023-021-01768-7.
Testo completoChen, Cliff, Abigail Methley, Ramona Naicker, Stewart Rust e Karolina M. Stepien. "Neuropsychology assessment and outcomes in adult mucopolysaccharidosis – A systematic review as the first step to service development in a large tertiary lysosomal storage disorders centre". Molecular Genetics and Metabolism, dicembre 2022, 106980. http://dx.doi.org/10.1016/j.ymgme.2022.106980.
Testo completoKong, Weijing, Shanshan Wu, Jing Zhang, Cheng Lu, Yingxue Ding e Yan Meng. "Global epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis". Journal of Pediatric Endocrinology and Metabolism, 16 luglio 2021. http://dx.doi.org/10.1515/jpem-2020-0742.
Testo completoBroeders, M., Jgj van Rooij, E. Oussoren, Tjm van Gestel, Ca Smith, Sj Kimber, Rm Verdijk et al. "Modeling cartilage pathology in mucopolysaccharidosis VI using iPSCs reveals early dysregulation of chondrogenic and metabolic gene expression". Frontiers in Bioengineering and Biotechnology 10 (6 dicembre 2022). http://dx.doi.org/10.3389/fbioe.2022.949063.
Testo completoTummolo, Albina, Giacomina Brunetti, Laura Piacente, Antonio Marzollo, Alessandra Biffi, Alberto Burlina e Maria Felicia Faienza. "Bone Remodeling in a Mps-1h Girl after Hematopoietic Stem Cell Transplantation along with Enzymatic Replacement Therapy". Endocrine, Metabolic & Immune Disorders - Drug Targets 22 (20 maggio 2022). http://dx.doi.org/10.2174/1871530322666220520121839.
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