Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/article/10.1007/s12519-016-0085-z/fulltext.html
Reference20 articles.
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2. Fowler B, Leonard JV, Baumgartner MR. Causes of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis 2008;31:350–360.
3. Horster F, Hoffmann GF. Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. Pediatr Nephrol 2004;19:1071–1074.
4. Prietsch V, Lindner M, Zschocke J, Nyhan WL, Hoffmann GF. Emergency management of inherited metabolic diseases. J Inherit Metab Dis 2002;25:531–546.
5. Horster F, Baumgartner MR, Viardot C, Suormala T, Burgard P, Fowler B, et al. Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut–, cblA, cblB). Pediatr Res 2007;62:225–230.
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2. Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient;Genetics Research;2022-07-22
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4. MUT gene variants in patients with methylmalonic acidemia in Bangladeshi population and their distinguishing metabolic profiles;Meta Gene;2021-12
5. Clinical presentation, molecular analysis and follow-up of patients with mut methylmalonic acidemia in Shandong province, China;Pediatrics & Neonatology;2020-04
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