Ketone body metabolism and its defects

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

(2013) Mónica Ramos et al.   European Journal of Medical Genetics

A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

(2013) Naeem Shafqat et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A treatable new cause of chorea: Beta-ketothiolase deficiency

(2013) Daniela Buhaş et al.   MOVEMENT DISORDERS

Successful adaptation to ketosis by mice with tissue-specific deficiency of ketone body oxidation

(2012) David G. Cotter et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency

(2011) Toshiyuki Fukao et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Obligate Role for Ketone Body Oxidation in Neonatal Metabolic Homeostasis

(2011) David G. Cotter et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene

(2011) Johannes Zschocke   JOURNAL OF INHERITED METABOLIC DISEASE

Inborn errors of ketogenesis and ketone body utilization

(2011) Jörn Oliver Sass   JOURNAL OF INHERITED METABOLIC DISEASE

A series of pregnancies in women with inherited metabolic disease

(2011) Janneke G Langendonk et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Siblings With Mitochondrial Acetoacetyl-CoA Thiolase Deficiency Not Identified by Newborn Screening

(2011) K. Sarafoglou et al.   PEDIATRICS

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

A novel mutation (c.951C>T) in an exonic splicing enhancer results in exon 10 skipping in the human mitochondrial acetoacetyl-CoA thiolase gene

(2010) Toshiyuki Fukao et al.   MOLECULAR GENETICS AND METABOLISM

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

(2010) Toshiyuki Fukao et al.   MOLECULAR GENETICS AND METABOLISM

Different Clinical Presentation in Siblings with Mitochondrial Acetoacetyl-CoA Thiolase Deficiency and Identification of Two Novel Mutations

(2010) Susanne Thümmler et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

Management and communication problems in a patient with succinyl-CoA transferase deficiency in pregnancy and labour

(2009) S. Merron et al.   INTERNATIONAL JOURNAL OF OBSTETRIC ANESTHESIA

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult

(2009) S. Reimão et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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 ketogenic diet for the treatment of childhood epilepsy: a randomised controlled trial

(2008) Elizabeth G Neal et al.   LANCET NEUROLOGY

A novel single-base substitution (c.1124A>G) that activates a 5-base upstream cryptic splice donor site within exon 11 in the human mitochondrial acetoacetyl-CoA thiolase gene

(2008) Toshiyuki Fukao et al.   MOLECULAR GENETICS AND METABOLISM