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

scientific article

Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.YMGME.2004.05.002
P8608Fatcat IDrelease_izel4x276jetfpqhzcgxims26q
P698PubMed publication ID15308131

P2093author name stringXue Yang
Yasuyuki Suzuki
Yoichi Matsubara
Yoko Aoki
Osamu Sakamoto
Shigeo Kure
Toshihiro Ohura
Yoichi Suzuki
Kazuie Iinuma
Nobuo Sakura
Masaki Takayanagi
P2860cites workIdentification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangementsQ24539565
Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)Q28344425
Molecular genetics of glycogen-storage disease type 1a in Chinese patients of TaiwanQ31851054
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduriaQ34163250
Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesisQ35084313
Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolismQ35086355
JSNP: a database of common gene variations in the Japanese populationQ39524445
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemiaQ40571072
Assay of methylmalonyl CoA mutase with high-performance liquid chromatographyQ42012879
Molecular analysis of PCCB gene in Korean patients with propionic acidemiaQ44200199
Frequency and distribution of phenylketonuric mutations in OrientalsQ57218515
Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cellsQ68212281
Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cellsQ68784882
The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblastsQ70719453
Defective metabolism of vitamin B12 in fibroblasts from children with methylmalonicaciduriaQ71154404
Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patientsQ72743269
Mitochondrial NADH- or NADPH-linked aquacobalamin reductase activity is low in human skin fibroblasts with defects in synthesis of cobalamin coenzymesQ72991800
P433issue4
P921main subjectvitamin BQ183206
methylmalonic acidemiaQ742500
P304page(s)329-333
P577publication date2004-08-01
P1433published inMolecular Genetics and MetabolismQ6895949
P1476titleMutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation
P478volume82

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cites work (P2860)
Q38018431Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
Q29541652Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes
Q42119569Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia
Q33394088Inborn errors of cobalamin absorption and metabolism
Q40788350Methylmalonic Acidemia Diagnosis by Laboratory Methods
Q38960827Methylmalonic and propionic acidemias: clinical management update
Q55644801Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.
Q34577981Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia
Q40783255Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type
Q26865440Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Q47037347Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria
Q46772907Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia
Q91627683Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia
Q27664715Structures of the Human GTPase MMAA and Vitamin B 12 -dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

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