Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations

Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia

(2016) Fatemeh Keyfi et al.   CELLULAR & MOLECULAR BIOLOGY LETTERS

Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency

(2016) F. Keyfi et al.   GENE

Functional Characterization and Categorization of Missense Mutations that Cause Methylmalonyl-CoA Mutase (MUT) Deficiency

(2014) Patrick Forny et al.   HUMAN MUTATION

Microarray based mutational analysis of patients with methylmalonic acidemia: Identification of 10 novel mutations

(2012) Halil Dündar et al.   MOLECULAR GENETICS AND METABOLISM

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia

(2012) Nithiwat Vatanavicharn et al.   MOLECULAR GENETICS AND METABOLISM

High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria

(2012) Laura Dempsey-Nunez et al.   MOLECULAR GENETICS AND METABOLISM

Neurocognitive Phenotype of Isolated Methylmalonic Acidemia

(2012) C. J. O'Shea et al.   PEDIATRICS

Clinical characteristics and gene mutation analysis of methylmalonic aciduria

(2011) Qin Yi et al.   Journal of Huazhong University of Science and Technology-Medical Sciences

Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant

(2011) A Guven et al.   PEDIATRIC DIABETES

Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type

(2010) Ana Jorge-Finnigan et al.   HUMAN MUTATION

Structures of the Human GTPase MMAA and Vitamin B12-dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

(2010) D. Sean Froese et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria

(2010) Mei-Ying Liu et al.   JOURNAL OF HUMAN GENETICS

CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency

(2010) Antonia H. Bouts et al.   PEDIATRIC NEPHROLOGY

Spectrum of mutations inMMACHC, allelic expression, and evidence for genotype–phenotype correlations

(2009) Jordan P. Lerner-Ellis et al.   HUMAN MUTATION

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

(2009) B. Pérez et al.   HUMAN MUTATION

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

(2009) Eva Richard et al.   HUMAN MUTATION

Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias

(2009) L. Filippi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

(2008) Célia Nogueira et al.   MOLECULAR GENETICS AND METABOLISM