Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

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Medium-chain acyl-CoA dehydrogenase deficiency: Two novel ACADM mutations identified in a retrospective screening.

P2860

Q49927469-81BC3802-EFCA-4EA3-9697-D591216FFF1A

P2860

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

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http://www.wikidata.org/entity/Q44734145

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

@zh-hant

name

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

@en

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

@nl

type

Item

label

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

@en

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

@nl

prefLabel

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

@en

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

@nl

P1476

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal

@en

P2093

A Lopes

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A Luz

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E Leão-Teles

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H Fonseca

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H Rocha

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R Ramos

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P2860

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli

Origins and divergence of the Roma (gypsies)

The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: an update.

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evol

High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies.

Four years of expanded newborn screening in Portugal with tandem mass spectrometry.

MCAD deficiency in Denmark.

P304

555-561

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P31

scholarly article

P356

10.1111/CGE.12227

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Isabel Rivera

Isabel Tavares de Almeida

P577

2013-07-28T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

23829193

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P921

Portugal

medium chain acyl-CoA dehydrogenase deficiency

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

about

P2860

P2860

Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921