Academic literature on the topic 'Methylmalonic aciduria'
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Journal articles on the topic "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.
Full textDeodato, 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.
Full textBrass, 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.
Full textCorazza, 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.
Full textAlhaj, 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.
Full textInoue, 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.
Full textMAHONEY, 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.
Full textNAKAI, 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.
Full textPeters, 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.
Full textAlkhunaizi, 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.
Full textDissertations / Theses on the topic "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.
Full textLiu, 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.
Full textChez 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.
Wong, Edward Sern Yuen. "Gene therapy for methylmalonic aciduria." Thesis, 2012. http://hdl.handle.net/2440/80601.
Full textThesis (Ph.D.) -- University of Adelaide, School of Paediatrics and Reproductive Health, 2012
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.
Full textBook chapters on the topic "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.
Full textJones, 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.
Full text"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.
Full text"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.
Full textNyhan, 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.
Full textNyhan, 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.
Full textDouralidou, 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.
Full textConference papers on the topic "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.
Full textForny, 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.
Full textSłowińska, 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.
Full text"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.
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