Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut− methylmalonic aciduria: Identification of seven novel mutations-Reference-Cited by-同舟云学术

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Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut− methylmalonic aciduria: Identification of seven novel mutations

Published:2007-03 Issue:3 Volume:90 Page:284-290
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Lempp Thomas J.,Suormala Terttu,Siegenthaler Renate,Baumgartner E. Regula,Fowler Brian,Steinmann Beat,Baumgartner Matthias R.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference25 articles.

1. Massachusetts metabolic disorders screening programm. II. Methylmalonic aciduria;Coulombe;Pediatrics,1981

2. Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome and implications;Schulze;Pediatrics,2003

3. Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts. Evidence for allelic heterogeneity, genetic compounds, and codominant expression;Willard;J. Clin. Invest.,1980

4. The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis;Sourmala;J. Biol. Chem.,2004

5. The natural history of the inherited methylmalonic acidemias;Matsui;N. Engl. J. Med.,1983

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2. Identification of Novel Mutations in the MMAA and MUT Genes among Methylmalonic Aciduria Families;Iranian Biomedical Journal;2023-11-01

3. Architecture of the human G-protein-methylmalonyl-CoA mutase nanoassembly for B12 delivery and repair;Nature Communications;2023-07-19

4. Architecture of the human G-protein-methylmalonyl-CoA mutase nanoassembly for B₁₂delivery and repair;2023-03-23

5. Clinical and molecular findings in 37 Turkish patients with isolated methylmalonic acidemia;TURKISH JOURNAL OF MEDICAL SCIENCES;2021-06-28

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