Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. - Wikidata - awgldk - TriplyDB

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

http://www.wikidata.org/entity/Q33569176

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Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases.

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P2860

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

http://www.wikidata.org/entity/Q33569176

description

2017 nî lūn-bûn

@nan

2017 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2017 թվականի փետրվարին հրատարակված գիտական հոդված

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2017年の論文

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2017年学术文章

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2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

name

Mild orotic aciduria in UMPS h ...... without clinical consequences.

@ast

Mild orotic aciduria in UMPS h ...... without clinical consequences.

@en

Mild orotic aciduria in UMPS h ...... without clinical consequences.

@nl

type

label

Mild orotic aciduria in UMPS h ...... without clinical consequences.

@ast

Mild orotic aciduria in UMPS h ...... without clinical consequences.

@en

Mild orotic aciduria in UMPS h ...... without clinical consequences.

@nl

prefLabel

Mild orotic aciduria in UMPS h ...... without clinical consequences.

@ast

Mild orotic aciduria in UMPS h ...... without clinical consequences.

@en

Mild orotic aciduria in UMPS h ...... without clinical consequences.

@nl

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S10545-017-0015-9

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Journal of Inherited Metabolic Disease

P1476

Mild orotic aciduria in UMPS h ...... without clinical consequences.

@en

P2093

Alessandro Pontoglio

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Bader Alhaddad

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Bruno Maranda

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Catherine Potente

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Curtis R Coughlin

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Emil F Pai

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George E Tiller

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James Pitt

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Leo A J Kluijtmans

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Lorenzo D Botto

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P2860

A nonradioactive high-performance liquid chromatographic microassay for uridine 5'-monophosphate synthase, orotate phosphoribosyltransferase, and orotidine 5'-monophosphate decarboxylase

Molecular cloning and nucleotide sequence for the complete coding region of human UMP synthase

Analysis of UMP synthase gene and mRNA structure in hereditary orotic aciduria fibroblasts

Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria families

Structures of the human orotidine-5'-monophosphate decarboxylase support a covalent mechanism and provide a framework for drug design

Inborn errors of pyrimidine metabolism: clinical update and therapy

Orotic aciduria and uridine monophosphate synthase: a reappraisal

Orotic aciduria fibroblasts express a labile form of UMP synthase

Whole exome sequencing of suspected mitochondrial patients in clinical practice.

The metabolic evaluation of the child with an intellectual developmental disorder: diagnostic algorithm for identification of treatable causes and new digital resource.

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s10545-017-0015-9

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423-431

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scholarly article

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10.1007/S10545-017-0015-9

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3

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40

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Richard J Rodenburg

Philippa B Mills

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2017-02-15T00:00:00Z

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1083829681

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