Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

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Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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Beta-Ketothiolase Deficiency P ...... orn Screen in Two Individuals.

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Beta-Ketothiolase Deficiency P ...... orn Screen in Two Individuals.

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Item

label

Beta-Ketothiolase Deficiency P ...... orn Screen in Two Individuals.

@en

Beta-Ketothiolase Deficiency P ...... orn Screen in Two Individuals.

@nl

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Beta-Ketothiolase Deficiency P ...... orn Screen in Two Individuals.

@en

Beta-Ketothiolase Deficiency P ...... orn Screen in Two Individuals.

@nl

P1476

Beta-Ketothiolase Deficiency P ...... orn Screen in Two Individuals.

@en

P2093

Casie A Genetti

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Catherine A Brownstein

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Gerard T Berry

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Inderneel Sahai

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Klaas J Wierenga

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Lance H Rodan

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Meghan C Towne

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Monica H Wojcik

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Pankaj B Agrawal

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Philip M James

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P2860

Analysis of protein-coding genetic variation in 60,706 humans

A "new" disorder of isoleucine catabolism

Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome"

The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

Ketone body metabolism and its defects.

Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.

Inborn errors of isoleucine degradation: a review.

3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene.

P304

45-54

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P31

scholarly article

P356

10.1007/8904_2017_45

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P478

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P50

Alan H. Beggs

P577

2017-07-20T00:00:00Z

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P698

28726122

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P932

5953889

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