Condition: Methylmalonic aciduria cblA type


rs1029096863 in MMAA gene and Methylmalonic aciduria cblA type PMID 21545677 2012 Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant.

PMID 16247646 2006 Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia.

PMID 15523652 2004 Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism.

PMID 28497574 2017 Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.

PMID 23026888 2012 High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria.

PMID 12438653 2002 Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements.

PMID 17957493 2008 Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

PMID 15308131 2004 Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation.

PMID 20876572 2010 Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation.

PMID 26270765 2016 A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias.

PMID 15781192 2005 Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

PMID 27591164 2017 Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.