Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.

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Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.

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http://www.wikidata.org/entity/Q38925219

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

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

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.

@en

type

Item

label

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.

@en

prefLabel

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.

@en

P1476

Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.

@en

P2093

Can Ficicioglu

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

Emma Bedoukian

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

Matthew A Deardorff

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Rebecca D Ganetzky

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P2860

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families

Newborn screening: toward a uniform screening panel and system

Postanalytical tools improve performance of newborn screening by tandem mass spectrometry.

Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.

Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

P304

43-47

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P31

scholarly article

case report

P356

10.1007/8904_2016_2

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P478

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

P577

2016-08-12T00:00:00Z

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P698

27515243

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P932

5509549

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