Genetic cause and prevalence of hydroxyprolinemia

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CAD mutations and uridine-responsive epileptic encephalopathy.Hydroxyproline Metabolism and Oxalate Synthesis in Primary Hyperoxaluria.

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Genetic cause and prevalence of hydroxyprolinemia

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im Mai 2016 veröffentlichter wissenschaftlicher Artikel

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wetenschappelijk artikel

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наукова стаття, опублікована в травні 2016

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Genetic cause and prevalence of hydroxyprolinemia

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Genetic cause and prevalence of hydroxyprolinemia

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type

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label

Genetic cause and prevalence of hydroxyprolinemia

@en

Genetic cause and prevalence of hydroxyprolinemia

@nl

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Genetic cause and prevalence of hydroxyprolinemia

@en

Genetic cause and prevalence of hydroxyprolinemia

@nl

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Genetic cause and prevalence of hydroxyprolinemia

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Caterina Terrile

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Christian Staufner

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Deepthi Ediga Raga

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Ertan Mayatepek

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Georg F. Hoffmann

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Gwendolyn Gramer

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Junmin Fang-Hoffmann

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Jürgen G. Okun

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Patrik Feyh

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Stefan Kölker

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P2860

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany

Mutations in DHDPSL are responsible for primary hyperoxaluria type III

A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia

Genetic evidence for a common enzyme catalyzing the second step in the degradation of proline and hydroxyproline

The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene

Proline dehydrogenase 2 (PRODH2) is a hydroxyproline dehydrogenase (HYPDH) and molecular target for treating primary hyperoxaluria

A general framework for estimating the relative pathogenicity of human genetic variants

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

Use of tandem mass spectrometry for multianalyte screening of dried blood specimens from newborns.

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

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s10545-016-9940-2

P304

625-632

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scholarly article

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10.1007/S10545-016-9940-2

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P433

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

P478

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P50

Holger Prokisch

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2016-05-02T00:00:00Z

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27139199

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Genetic cause and prevalence of hydroxyprolinemia

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P2860

P2860

Genetic cause and prevalence of hydroxyprolinemia

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698