The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts

(2014) Andrea J. Deutschmann et al.   HUMAN MOLECULAR GENETICS

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene

(2011) Johannes Zschocke   JOURNAL OF INHERITED METABOLIC DISEASE

Hydroxysteroid (17β) dehydrogenase X in human health and disease

(2011) Song-Yu Yang et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

A Novel Mutation in the HSD17B10 Gene of a 10-Year-Old Boy with Refractory Epilepsy, Choreoathetosis and Learning Disability

(2011) Laurie H. Seaver et al.   PLoS One

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

(2010) Katharina Rauschenberger et al.   EMBO Molecular Medicine

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

(2010) Judit García-Villoria et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mental retardation linked to mutations in the HSD17B10 gene interfering with neurosteroid and isoleucine metabolism

(2009) S.-Y. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

RNase P without RNA: Identification and Functional Reconstitution of the Human Mitochondrial tRNA Processing Enzyme

(2008) Johann Holzmann et al.   CELL

The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative

(2008) Bengt Persson et al.   CHEMICO-BIOLOGICAL INTERACTIONS

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis

(2008) Judit García-Villoria et al.   CLINICAL BIOCHEMISTRY