Methylmalonic Acidemia Diagnosis by Laboratory Methods.

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Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings.

P2860

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Methylmalonic Acidemia Diagnosis by Laboratory Methods.

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

@zh-hant

name

Methylmalonic Acidemia Diagnosis by Laboratory Methods.

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Methylmalonic Acidemia Diagnosis by Laboratory Methods.

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Methylmalonic Acidemia Diagnosis by Laboratory Methods.

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P1476

Methylmalonic Acidemia Diagnosis by Laboratory Methods.

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P2093

Abdol-Reza Varasteh

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Fatemeh Keyfi

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Saeed Talebi

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P2860

Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome

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

Molecular cloning of L-methylmalonyl-CoA mutase: gene transfer and analysis of mut cell lines

Decyanation of vitamin B12 by a trafficking chaperone

Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia

A bioinformatician's view of the metabolome

Isolation and characterization of methylmalonyl-CoA mutase from human placenta

Structure of the human methylmalonyl-CoA mutase (MUT) locus

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia

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scholarly article

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2016-10-01T00:00:00Z

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28070528

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Methylmalonic Acidemia Diagnosis by Laboratory Methods.

about

P2860

P2860

Methylmalonic Acidemia Diagnosis by Laboratory Methods.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P433

P478

P577

P698

P932

P1433

P1476

P2093

P2860

P304

P31

P433

P478

P577

P698

P932