First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder? - Wikidata - awgldk - TriplyDB

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

http://www.wikidata.org/entity/Q36001488

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P248

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

http://www.wikidata.org/entity/Q36001488

description

2015 nî lūn-bûn

@nan

2015年の論文

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2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

@zh-cn

name

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

@ast

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

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type

label

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

@ast

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

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prefLabel

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

@ast

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

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S10545-014-9809-1

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Journal of Inherited Metabolic Disease

P1476

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

@en

P2093

Annette P M van den Elzen

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Gajja S Salomons

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George J G Ruijter

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Luisa Diogo

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Mirjam M C Wamelink

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Nelson Neves

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Ramon Bonte

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Ruben J J F Ramos

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P2860

The sedoheptulose kinase CARKL directs macrophage polarization through control of glucose metabolism

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway

The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion

Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency

Craniofacial and dental findings in cystinosis.

Sedoheptulose kinase regulates cellular carbohydrate metabolism by sedoheptulose 7-phosphate supply.

Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism.

Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.

Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism.

Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.

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889-894

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5

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38

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Isabel Tavares de Almeida

Arvand Haschemi

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2015-02-03T00:00:00Z

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273954695

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