Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

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Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia.

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2015 nî lūn-bûn

@nan

2015年の論文

@ja

2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

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name

Analysis of Novel Mutations an ...... olated Methylmalonic Acidemia.

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label

Analysis of Novel Mutations an ...... olated Methylmalonic Acidemia.

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prefLabel

Analysis of Novel Mutations an ...... olated Methylmalonic Acidemia.

@en

P1476

Analysis of Novel Mutations an ...... solated Methylmalonic Acidemia

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P2093

Nithiwat Vatanavicharn

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Phannee Sawangareetrakul

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Pornswan Wasant

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Somporn Liammongkolkul

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Voraratt Champattanachai

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P2860

Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency

Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain

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

Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia.

Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients.

Causes of and diagnostic approach to methylmalonic acidurias.

Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.

Novel mutations in a Thai patient with methylmalonic acidemia.

Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport.

P2888

s10528-015-9694-9

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310-318

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scholarly article

P356

10.1007/S10528-015-9694-9

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P433

11-12

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P478

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P50

Jisnuson Svasti

James Ketudat Cairns

P577

2015-09-14T00:00:00Z

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P698

26370686

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