(Q34340750)

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

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Europe PubMed Central

1 August 2017

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

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Europe PubMed Central

1 August 2017

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methylmalonic acidemia

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author name string

Xue Yang

1

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1 August 2017

Osamu Sakamoto

2

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1 August 2017

Yoichi Matsubara

3

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1 August 2017

Shigeo Kure

4

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1 August 2017

Yoichi Suzuki

5

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1 August 2017

Yoko Aoki

6

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1 August 2017

Yasuyuki Suzuki

7

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1 August 2017

Nobuo Sakura

8

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1 August 2017

Masaki Takayanagi

9

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1 August 2017

Kazuie Iinuma

10

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1 August 2017

Toshihiro Ohura

11

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1 August 2017

publication date

1 August 2004

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Molecular Genetics and Metabolism

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1 August 2017

82

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4

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329-333

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1 August 2017

Defective metabolism of vitamin B12 in fibroblasts from children with methylmalonicaciduria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Methylmalonicacidemia: biochemical heterogeneity in defects of 5'-deoxyadenosylcobalamin synthesis

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Genetic complementation in heterokaryons of human fibroblasts defective in cobalamin metabolism

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

The defect in the cbl B class of human methylmalonic acidemia: deficiency of cob(I)alamin adenosyltransferase activity in extracts of cultured fibroblasts

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Mitochondrial NADH- or NADPH-linked aquacobalamin reductase activity is low in human skin fibroblasts with defects in synthesis of cobalamin coenzymes

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Assay of methylmalonyl CoA mutase with high-performance liquid chromatography

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

JSNP: a database of common gene variations in the Japanese population

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Propionic acidaemia: sequence analysis of mutant mRNAs from Japanese beta subunit-deficient patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Molecular analysis of PCCB gene in Korean patients with propionic acidemia

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Frequency and distribution of phenylketonuric mutations in Orientals

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Molecular genetics of glycogen-storage disease type 1a in Chinese patients of Taiwan

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Methylmalonic aciduria due to a new defect in adenosylcobalamin accumulation by cells

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.05.002

7 January 2021

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10.1016/J.YMGME.2004.05.002

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Europe PubMed Central

1 August 2017

release_izel4x276jetfpqhzcgxims26q

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24 November 2022

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1 August 2017

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