Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

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2016 nî lūn-bûn

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2016年の論文

@ja

2016年論文

@yue

2016年論文

@zh-hant

2016年論文

@zh-hk

2016年論文

@zh-mo

2016年論文

@zh-tw

2016年论文

@wuu

2016年论文

@zh

2016年论文

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name

Novel Mouse Models of Methylma ...... with a Genetic Dosage Effect.

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label

Novel Mouse Models of Methylma ...... with a Genetic Dosage Effect.

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prefLabel

Novel Mouse Models of Methylma ...... with a Genetic Dosage Effect.

@en

P1476

Novel Mouse Models of Methylma ...... with a Genetic Dosage Effect.

@en

P2093

Anke Schumann

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Assem Zhakupova

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Beat Thony

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Claus-Dieter Langhans

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Déborah Mathis

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Heidi L Peters

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Joerg Heeren

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Ludger Scheja

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Marie-Angela Wulf

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Merima Mustedanagic

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P2860

New equations to estimate GFR in children with CKD

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT

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

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality

Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.

Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy.

P304

20563-20573

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P31

scholarly article

P356

10.1074/JBC.M116.747717

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P407

English

P433

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P478

291

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P50

Matthias R Baumgartner

D. Sean Froese

Patrick Forny

P577

2016-08-12T00:00:00Z

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P698

27519416

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P932

5034050

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