Готові списки джерел за темами / Methylmalonic aciduria

Добірка наукової літератури з теми "Methylmalonic aciduria"

Автор: Grafiati

Опубліковано: 10 грудня 2022

Оновлено: 28 січня 2023

Оформте джерело за APA, MLA, Chicago, Harvard та іншими стилями

Оберіть тип джерела:

Зміст

Статті в журналах
Дисертації
Частини книг
Тези доповідей конференцій

Ознайомтеся зі списками актуальних статей, книг, дисертацій, тез та інших наукових джерел на тему "Methylmalonic aciduria".

Біля кожної праці в переліку літератури доступна кнопка «Додати до бібліографії». Скористайтеся нею – і ми автоматично оформимо бібліографічне посилання на обрану працю в потрібному вам стилі цитування: APA, MLA, «Гарвард», «Чикаго», «Ванкувер» тощо.

Також ви можете завантажити повний текст наукової публікації у форматі «.pdf» та прочитати онлайн анотацію до роботи, якщо відповідні параметри наявні в метаданих.

Статті в журналах з теми "Methylmalonic aciduria"

Fowler, Brian. "Methylmalonic aciduria articles." Journal of Inherited Metabolic Disease 31, no. 1 (January 16, 2008): 4. http://dx.doi.org/10.1007/s10545-007-9980-8.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Deodato, Federica, Sara Boenzi, Filippo M. Santorelli, and Carlo Dionisi-Vici. "Methylmalonic and propionic aciduria." American Journal of Medical Genetics Part C: Seminars in Medical Genetics 142C, no. 2 (2006): 104–12. http://dx.doi.org/10.1002/ajmg.c.30090.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Brass, E. P., and S. P. Stabler. "Carnitine metabolism in the vitamin B-12-deficient rat." Biochemical Journal 255, no. 1 (October 1, 1988): 153–59. http://dx.doi.org/10.1042/bj2550153.

Повний текст джерела

Анотація:

In vitamin B-12 (cobalamin) deficiency the metabolism of propionyl-CoA and methylmalonyl-CoA are inhibited secondarily to decreased L-methylmalonyl-CoA mutase activity. Production of acylcarnitines provides a mechanism for removing acyl groups and liberating CoA under conditions of impaired acyl-CoA utilization. Carnitine metabolism was studied in the vitamin B-12-deficient rat to define the relationship between alterations in acylcarnitine generation and the development of methylmalonic aciduria. Urinary excretion of methylmalonic acid was increased 200-fold in vitamin B-12-deficient rats as compared with controls. Urinary acylcarnitine excretion was increased in the vitamin B-12-deficient animals by 70%. This increase in urinary acylcarnitine excretion correlated with the degree of metabolic impairment as measured by the urinary methylmalonic acid elimination. Urinary propionylcarnitine excretion averaged 11 nmol/day in control rats and 120 nmol/day in the vitamin B-12-deficient group. The fraction of total carnitine present as short-chain acylcarnitines in the plasma and liver of vitamin B-12-deficient rats was increased as compared with controls. When the rats were fasted for 48 h, relative or absolute increases were seen in the urine, plasma, liver and skeletal-muscle acylcarnitine content of the vitamin B-12-deficient rats as compared with controls. Thus vitamin B-12 deficiency was associated with a redistribution of carnitine towards acylcarnitines. Propionylcarnitine was a significant constituent of the acylcarnitine pool in the vitamin B-12-deficient animals. The changes in carnitine metabolism were consistent with the changes in CoA metabolism known to occur with vitamin B-12 deficiency. The vitamin B-12-deficient rat provides a model system for studying carnitine metabolism in the methylmalonic acidurias.

Стилі APA, Harvard, Vancouver, ISO та ін.

Corazza, F., D. Blum, A. Clercx, Y. Mardens, and P. Fondu. "Erythroblastopenia Associated with Methylmalonic Aciduria." Neonatology 70, no. 5 (1996): 304–10. http://dx.doi.org/10.1159/000244380.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Alhaj, Safa, Mine Ozdil, Isa Ozyilmaz, Gurkan Altun, Ahmet Aydin, and Hasan Onal. "Combined methylmalonic aciduria and homocystinuria." Journal of Pediatric Neurology 06, no. 01 (July 30, 2015): 073–76. http://dx.doi.org/10.1055/s-0035-1557421.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Inoue, F., N. Terada, S. Nukina, N. Kodo, A. Kinugasa, and T. Sawada. "Methylmalonic aciduria with pathological fracture." Journal of Inherited Metabolic Disease 16, no. 6 (1993): 1052–53. http://dx.doi.org/10.1007/bf00711530.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

MAHONEY, MAURICE J., LEON E. ROSENBERG, BENGT LNDBLAD, JOHAN WALDENSTROM, and ROLF ZETTERSTROM. "PRENATAL DIAGNOSIS OF METHYLMALONIC ACIDURIA." Acta Paediatrica 64, no. 1 (January 21, 2008): 44–48. http://dx.doi.org/10.1111/j.1651-2227.1975.tb04378.x.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

NAKAI, AKIO, YOUSUKE SHIGEMATSU, MASAKAZU SAITO, YOSHIHARU KIKAWA, and MASAKATSU SUDO. "Pathophysiologic Study on Methylmalonic Aciduria." Pediatric Research 30, no. 1 (July 1991): 5???10. http://dx.doi.org/10.1203/00006450-199107010-00002.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Peters, Heidi L., James J. Pitt, Leonie R. Wood, Natasha J. Hamilton, Joseph P. Sarsero, and Nicole E. Buck. "Mouse Models for Methylmalonic Aciduria." PLoS ONE 7, no. 7 (July 9, 2012): e40609. http://dx.doi.org/10.1371/journal.pone.0040609.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Alkhunaizi, Ahmed M., and Nouriya Al-Sannaa. "Renal Involvement in Methylmalonic Aciduria." Kidney International Reports 2, no. 5 (September 2017): 956–60. http://dx.doi.org/10.1016/j.ekir.2017.04.007.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Більше джерел

Дисертації з теми "Methylmalonic aciduria"

Gradinger, Abigail. "Atypical methylmalonic aciduria : frequency of mutations in the methylmalonyl-CoA epimerase (MCEE) gene." Thesis, McGill University, 2007. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=101848.

Повний текст джерела

Анотація:

Methylmalonic aciduria results from defects in the enzyme methylmalonyl-CoA mutase and from defects in the synthesis of the enzyme's cofactor adenosylcobalamin. Two patients who excrete methylmalonic acid have been shown to have a homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE). To further understand the causes of methylmalonic acid excretion, the MCEE gene was sequenced in 229 patients who excreted methylmalonic acid for which no cause was known. Mutations were detected in five patients. Fusion of fibroblast lines from two patients with a homozygous nonsense mutation in MCEE did not result in correction of [14C]propionate incorporation toward control values while the defect in these fibroblasts was complemented by mut, cblA, and cblB fibroblasts. Transfection with wild-type MCEE cDNA resulted in correction of the biochemical phenotype in cells from both patients. These experiments support the hypothesis that a defective epimerase enzyme can be a cause of elevated methylmalonic acid excretion.

Стилі APA, Harvard, Vancouver, ISO та ін.

Liu, Jun Hui. "Construction of a knockout mouse model for combined methylmalonic aciduria and homocystinuria, «cblC» type («Mmachc»)." Thesis, McGill University, 2010. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=92168.

Повний текст джерела

Анотація:

The MMACHC gene is responsible for cblC, the most common inborn error of cobalamin metabolism in man. We created a knockout mouse model for its ortholog, Mmachc. Embryonic stem cells from 129 strain mice heterozygous for Mmachc containing a gene trap in intron 1 were injected into blastocysts from c57B6 mice to generate chimeras. Crossing chimeric males to c57B6 females generated heterozygous F1 mice. Geonotyping of F2 mice showed 36 wild type, 71 heterozygous and 3 homozygous. The three homozygous mutant F2 mice had a normal phenotype possibly due to alternative splicing causing expression of wild type Mmachc. Genotyping of embryos showed absence of homozygous mutants at e17.5, suggesting they died earlier. We observed phenotypes including open neural folds, amnionless-like, holoprosencephaly and abnormal limbs and face in individual homozygous mutant embryos. This work enables us to further clarify functions of Mmachc and the role of it in birth defects.
Chez l'homme, le gène MMACHC est responsable de la maladie cblC qui est l'erreur innée la plus commune de sentier de métabolique de la cobalamine. Nous avons créé un modèle de souris knockout pour son orthologue--Mmachc. Des cellules souches embryonnaires de type 129 heterozygotes pour un gène piégé dans l'intron 1 de Mmachc ont été injectées dans des blastocystes de type c57B6 afin de produire des chimères. Le croisement de mâles chimériques et de femelles de type c57B6 a produit des mutants hétérozygotes F1. Le génotypage a démontré 36 souris de type sauvage, 71 hétérozygotes et 3 homozygotes. Le génotypage a démontré l'absence d'embryons homozygotes mutants à e17.5, suggérant que les embryons homozygotes mutants sont morts avant e17.5. Nous avons observé des dysmorphologies telles que des plis neuronaux ouverts, un phenotype similaire à 'amnionless', de l'holoprosencephaly et des membres et visages anormaux dans les embryons homozygotes mutants. Les trois souris homozygotes mutantes qui ont survécues à la naissance avaient un phenotype normal. Elles exprimaient Mmachc de type sauvage et mutant, possiblement en raison d'un épissage alternatif.

Стилі APA, Harvard, Vancouver, ISO та ін.

Wong, Edward Sern Yuen. "Gene therapy for methylmalonic aciduria." Thesis, 2012. http://hdl.handle.net/2440/80601.

Повний текст джерела

Анотація:

Methylmalonic aciduria (MMAuria) most commonly results from a deficiency of methylmalonyl coenzyme A mutase (MCM). Current treatments for MMAuria remain unsatisfactory and research on novel therapies remains a high priority. A lentiviral (LV) vector was developed to treat in vitro and in vivo models of MMAuria. The overall aim of this project was to examine the therapeutic effect of a LV vector that expresses human MCM transgene in MCM knockout fibroblasts and a MMA affected, mut -/- muth2, murine model. In the first study, a self-inactivating LV vector that expressed human MCM, HIV- 1SDmEF1αhMCM, was constructed and transduced into MCM knockout fibroblasts. Normal cells and untransduced MCM knockout fibroblasts served as controls. Real-time PCR showed a high level of vector copy number, 8 ± 2 copies/cell in LV-treated MCM-knockout fibroblasts, resulting in correction of both the MCM enzyme activity and propionate metabolism in MCM-knockout fibroblasts. The HIV-1SDmEF1αhMCM was then delivered intravenously into mut -/- muth2 mice (n=2). Untreated mut -/- muth2 mice (n=2) and normal mice (n=5) were used as controls. Vector was detected at a copy number of 0.19 ± 0.04 copies/cell in liver. Nevertheless, the MCM enzyme analysis showed only a modest restoration of enzyme activity in the treated mice, resulting in a mild reduction of plasma and urine MMA levels in the treated animals. These data suggest success in targeting the liver with the intravenous gene delivery approach. Nevertheless, it was required to improve the human MCM transgene expression in order to enhance the level of restoration of MCM enzyme activity to further reduce the MMA levels. In the second study, a LV vector that expresses a codon-optimised human MCM transgene, HIV-1SDmEF1αmurSigHutMCM, was produced and transduced into MCM-knockout fibroblasts. High levels of vector, 20 ± 0.8 copies/cell, were detected in LV-treated MCM- knockout fibroblasts. Western blot analysis and MCM enzyme activity analysis by HPLC demonstrated a high level of MCM expression in the treated fibroblasts, resulting in the correction of MCM enzyme activity, with the formation of a significant level of succinyl coenzyme A (179 ± 19 nM/min/μg of total cell protein). The HIV-1SDmEF1αmurSigHutMCM was then injected intravenously into mut -/- muth2 mice (n=5). Untreated mut -/- muth2 (n=6) and normal mice (n=6) were used as controls. The HIV-1SDmEF1αmurSigHutMCM-treated mice achieved near-normal weight for sex. The western blot analysis demonstrated significant MCM enzyme expression in the liver of treated mice, with the measurement of high level of enzyme activity (66 ± 21 nM/min/μg of total cell protein). Biochemical analyses demonstrated that the normalization of MCM enzyme activity in the treated group was associated with a reduction in plasma and urine MMA levels. Furthermore, that a significantly lower MMA concentration, 133± 20 μM/g tissue, was measured in the liver compared to the untreated mice, 1003 ± 124 μM/g tissue. These results confirm that HIV-1SDmEF1αmurSigHutMCM provides significant, if incomplete, biochemical correction for the treatment of this disease, suggesting that gene therapy is a potential treatment for MMAuria.
Thesis (Ph.D.) -- University of Adelaide, School of Paediatrics and Reproductive Health, 2012

Стилі APA, Harvard, Vancouver, ISO та ін.

Liu, Junhui. "Construction of a knockout mouse model for combined methylmalonic aciduria and homocystinuria, cblC type (Mmachc)." 2009. http://digitool.Library.McGill.CA:8881/R/?func=dbin-jump-full&object_id=92166.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Частини книг з теми "Methylmalonic aciduria"

Liu, Mei-Ying, Tze-Tze Liu, Yang-Ling Yang, Ying-Chen Chang, Ya-Ling Fan, Shu-Fen Lee, Yu-Ting Teng, et al. "Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients." In JIMD Reports, 55–64. Berlin, Heidelberg: Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/8904_2011_117.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Jones, Patricia, Khushbu Patel, and Dinesh Rakheja. "Disorder: Methylmalonic aciduria." In A Quick Guide to Metabolic Disease Testing Interpretation, 51–56. Elsevier, 2020. http://dx.doi.org/10.1016/b978-0-12-816926-1.00009-2.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

"Methylmalonic aciduria and homocystinuria (cobalamin C and D disease)." In Atlas of Metabolic Diseases Second edition, 42–47. CRC Press, 2005. http://dx.doi.org/10.1201/b13565-9.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

"Methylmalonic aciduria and homocystinuria (cobalamin C and D disease)." In Atlas of Inherited Metabolic Diseases 3E, 33–39. CRC Press, 2011. http://dx.doi.org/10.1201/b15310-6.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Nyhan, William L., Georg F. Hoffmann, Aida I. Al-Aqeel, and Bruce A. Barshop. "The methylmalonic malonic aciduria of deficiency of AcylCoA synthetase (ACSF3)." In Atlas of Inherited Metabolic Diseases, 42–44. CRC Press, 2020. http://dx.doi.org/10.1201/9781315114033-5.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Nyhan, William L., Georg F. Hoffmann, Aida I. Al-Aqeel, and Bruce A. Barshop. "Cobalamin C, D, F, G diseases; methylmalonic aciduria and variable homocystinuria." In Atlas of Inherited Metabolic Diseases, 34–41. CRC Press, 2020. http://dx.doi.org/10.1201/9781315114033-4.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Douralidou, Despoina, Alenka Hrovatu, and Beatrice Carletti. "Epileptic seizures as unique neurological manifestation in a dog with methylmalonic aciduria without hypocobalaminemia." In BSAVA Congress Proceedings 2020, 499. British Small Animal Veterinary Association, 2020. http://dx.doi.org/10.22233/9781910443774.75.4.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Тези доповідей конференцій з теми "Methylmalonic aciduria"

Forny, P., S. Munir, J. Stojanovic, N. Hadzic, G. Barone, R. Vara, and S. Gruenewald. "127 Multidisciplinary management of a complex course of methylmalonic aciduria." In Great Ormond Street Hospital Conference 2018: Continuous Care. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2018. http://dx.doi.org/10.1136/goshabs.127.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Forny, P., J. Davison, R. Skeath, S. Gruenewald, J. Stojanovic, N. Hadzic, G. Barone, R. Vara, and S. Munir. "057 GOSH-wide review of pancreatitis as a complication in methylmalonic aciduria." In Great Ormond Street Hospital Conference 2018: Continuous Care. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2018. http://dx.doi.org/10.1136/goshabs.57.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Słowińska, Agnieszka, and Patryk Domarecki. "395 Severe neurological symptoms in a 7.5-month-old girl with megaloblastic anaemia and methylmalonic aciduria – case report." In 10th Europaediatrics Congress, Zagreb, Croatia, 7–9 October 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-europaediatrics.395.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

"METHYLMALONIC ACIDURIAS - mut0/mut- and cblC Defects in Portuguese Population." In International Conference on Bioinformatics. SciTePress - Science and and Technology Publications, 2010. http://dx.doi.org/10.5220/0002759802610263.

Повний текст джерела

Стилі APA, Harvard, Vancouver, ISO та ін.

Ми пропонуємо знижки на всі преміум-плани для авторів, чиї праці увійшли до тематичних добірок літератури. Зв'яжіться з нами, щоб отримати унікальний промокод!