(Q37962802)

26 August 2017

title

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene (English)

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26 August 2017

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Johannes Zschocke

1

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26 August 2017

language of work or name

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30 November 2011

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Journal of Inherited Metabolic Disease

26 August 2017

published in

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26 August 2017

volume

35

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26 August 2017

issue

1

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26 August 2017

page(s)

81-89

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https://scigraph.springernature.com/pub.10.1007/s10545-011-9415-4

26 August 2017

exact match

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cites work

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Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

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Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency

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Deposition of Alzheimer's vascular amyloid-beta is associated with decreased expression of brain L-3-hydroxyacyl-coenzyme A dehydrogenase (ERAB)

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X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency

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A human brain L-3-hydroxyacyl-coenzyme A dehydrogenase is identical to an amyloid beta-peptide-binding protein involved in Alzheimer's disease

21 January 2018

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Human brain short chain L-3-hydroxyacyl coenzyme A dehydrogenase is a single-domain multifunctional enzyme. Characterization of a novel 17beta-hydroxysteroid dehydrogenase

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Identity of heart and liver L-3-hydroxyacyl coenzyme A dehydrogenase

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Characterization and localization of human type10 17beta-hydroxysteroid dehydrogenase

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RNase P without RNA: identification and functional reconstitution of the human mitochondrial tRNA processing enzyme

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2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

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Recognition of structurally diverse substrates by type II 3-hydroxyacyl-CoA dehydrogenase (HADH II)/amyloid-beta binding alcohol dehydrogenase (ABAD)

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A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

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21 January 2018

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Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism

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Inborn errors of ketogenesis and ketone body utilization

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12 December 2020

Intrinsic alcohol dehydrogenase and hydroxysteroid dehydrogenase activities of human mitochondrial short-chain L-3-hydroxyacyl-CoA dehydrogenase

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12 December 2020

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Two mitochondrial 3-hydroxyacyl-CoA dehydrogenases in bovine liver

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Purification and Properties of a Specific Escherichia coli Ribonuclease which Cleaves a Tyrosine Transfer Ribonucleic Acid Precursor

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Short-Chain 3-Hydroxy-2-methylacyl-CoA Dehydrogenase from Rat Liver: Purification and Characterization of a Novel Enzyme of Isoleucine Metabolism

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12 December 2020

10.1007/S10545-011-9415-4

Identifiers

DOI

1 reference

26 August 2017

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