Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

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Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

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2016 nî lūn-bûn

@nan

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

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2016年论文

@zh

2016年论文

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name

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

@en

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

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label

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

@en

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

@nl

prefLabel

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

@en

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.

@nl

P1476

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

@en

P2093

Amaya Belanger-Quintana

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Ana Fernández-Marmiesse

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Ana M Márquez-Armenteros

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Belén Pérez

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Celia Pérez-Cerdá

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Inmaculada Vives

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Javier Blasco

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Luís Aldamiz-Echevarría

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María A Bueno

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María-Teresa García-Silva

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P2860

Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia

Isovaleric acidemia: a new genetic defect of leucine metabolism

L-carnitine therapy in isovaleric acidemia

Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns.

Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia.

Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity

Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.

Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

P2888

jhg.2016.144

P304

355-360

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P31

scholarly article

P356

10.1038/JHG.2016.144

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P433

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P478

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P50

María L Couce

I Vitoria Miñana

P577

2016-12-01T00:00:00Z

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P698

27904153

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