scholarly article | Q13442814 |
P356 | DOI | 10.1016/J.YMGME.2004.05.002 |
P8608 | Fatcat ID | release_izel4x276jetfpqhzcgxims26q |
P698 | PubMed publication ID | 15308131 |
P2093 | author name string | Xue Yang | |
Yasuyuki Suzuki | |||
Yoichi Matsubara | |||
Yoko Aoki | |||
Osamu Sakamoto | |||
Shigeo Kure | |||
Toshihiro Ohura | |||
Yoichi Suzuki | |||
Kazuie Iinuma | |||
Nobuo Sakura | |||
Masaki Takayanagi | |||
P2860 | cites work | Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements | Q24539565 |
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 Taiwan | Q31851054 | ||
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria | Q34163250 | ||
Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis | Q35084313 | ||
Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism | Q35086355 | ||
JSNP: a database of common gene variations in the Japanese population | Q39524445 | ||
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia | Q40571072 | ||
Assay of methylmalonyl CoA mutase with high-performance liquid chromatography | Q42012879 | ||
Molecular analysis of PCCB gene in Korean patients with propionic acidemia | Q44200199 | ||
Frequency and distribution of phenylketonuric mutations in Orientals | Q57218515 | ||
Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells | Q68212281 | ||
Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells | Q68784882 | ||
The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts | Q70719453 | ||
Defective metabolism of vitamin B12 in fibroblasts from children with methylmalonicaciduria | Q71154404 | ||
Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients | Q72743269 | ||
Mitochondrial NADH- or NADPH-linked aquacobalamin reductase activity is low in human skin fibroblasts with defects in synthesis of cobalamin coenzymes | Q72991800 | ||
P433 | issue | 4 | |
P921 | main subject | vitamin B | Q183206 |
methylmalonic acidemia | Q742500 | ||
P304 | page(s) | 329-333 | |
P577 | publication date | 2004-08-01 | |
P1433 | published in | Molecular Genetics and Metabolism | Q6895949 |
P1476 | title | Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation | |
P478 | volume | 82 |
Q38018431 | Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. |
Q29541652 | Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes |
Q42119569 | Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia |
Q33394088 | Inborn errors of cobalamin absorption and metabolism |
Q40788350 | Methylmalonic Acidemia Diagnosis by Laboratory Methods |
Q38960827 | Methylmalonic and propionic acidemias: clinical management update |
Q55644801 | Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings. |
Q34577981 | Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia |
Q40783255 | Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type |
Q26865440 | Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia |
Q47037347 | Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria |
Q46772907 | Renal transplantation in a 14-year-old girl with vitamin B12-responsive cblA-type methylmalonic acidaemia |
Q91627683 | Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia |
Q27664715 | Structures of the Human GTPase MMAA and Vitamin B 12 -dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation |
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