(Q34413875)

2 August 2017

title

Ketone body metabolism and its defects (English)

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2 August 2017

Toshiyuki Fukao

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2 August 2017

Grant Mitchell

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2 August 2017

Jörn Oliver Sass

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2 August 2017

Tomohiro Hori

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2 August 2017

Kenji Orii

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2 August 2017

Yuka Aoyama

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2 August 2017

publication date

8 April 2014

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Journal of Inherited Metabolic Disease

2 August 2017

published in

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2 August 2017

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2 August 2017

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2 August 2017

page(s)

541-551

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Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency

2 August 2017

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21 January 2018

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Neonatal hypoglycaemia in severe succinyl-CoA: 3-oxoacid CoA-transferase deficiency

21 January 2018

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3-hydroxy-3-methylglutaryl-CoA lyase deficiency in an adult with leukoencephalopathy

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The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.

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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients

21 January 2018

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Obligate role for ketone body oxidation in neonatal metabolic homeostasis

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

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A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

21 January 2018

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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

21 January 2018

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

21 January 2018

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A neonatal-onset succinyl-CoA:3-ketoacid CoA transferase (SCOT)-deficient patient with T435N and c.658-666dupAACGTGATT p.N220_I222dup mutations in the OXCT1 gene.

21 January 2018

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Identification and characterization of a temperature-sensitive R268H mutation in the human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene.

21 January 2018

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Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry

21 January 2018

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Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry

21 January 2018

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Single base substitutions at the initiator codon in the mitochondrial acetoacetyl-CoA thiolase (ACAT1/T2) gene result in production of varying amounts of wild-type T2 polypeptide

21 January 2018

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Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations

21 January 2018

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Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure

21 January 2018

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

21 January 2018

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A 6-bp deletion at the splice donor site of the first intron resulted in aberrant splicing using a cryptic splice site within exon 1 in a patient with succinyl-CoA: 3-Ketoacid CoA transferase (SCOT) deficiency

21 January 2018

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

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The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients

21 January 2018

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Patients homozygous for the T435N mutation of succinyl-CoA:3-ketoacid CoA Transferase (SCOT) do not show permanent ketosis

21 January 2018

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The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity

21 January 2018

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

21 January 2018

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Introduction of a ketogenic diet in young infants

21 January 2018

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Facilitated glucose transporter protein type 1 (GLUT1) deficiency syndrome: impaired glucose transport into brain-- a review

21 January 2018

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

21 January 2018

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The oxoacyl-coenzyme A thiolases of animal tissues

21 January 2018

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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

21 January 2018

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Cerebral ketone body metabolism

21 January 2018

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Hepatic mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme a synthase deficiency

21 January 2018

1 reference

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Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency

21 January 2018

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A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene

21 January 2018

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

21 January 2018

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Succinyl-CoA:acetoacetate transferase deficiency: identification of a new patient with a neonatal onset and review of the literature

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9704-9

A new case of succinyl-CoA: acetoacetate transferase deficiency

21 January 2018

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https://api.crossref.org/works/10.1007%2FS10545-014-9704-9

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Inborn errors of ketogenesis and ketone body utilization

21 January 2018

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

21 January 2018

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Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency: two pathogenic mutations, V133E and C456F, in Japanese siblings

21 January 2018

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Fasting hypoketotic coma in a child with deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase.

21 January 2018

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Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations

21 January 2018

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Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy

21 January 2018

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D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9704-9

Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9704-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9704-9

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9704-9

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9704-9

The diagnosis of mitochondrial HMG-CoA synthase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9704-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9704-9

Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy

21 January 2018

1 reference

12 December 2020

A series of pregnancies in women with inherited metabolic disease

1 reference

12 December 2020

Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency

1 reference

12 December 2020

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

12 December 2020

A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity

1 reference

12 December 2020

Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient

1 reference

12 December 2020

The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria

1 reference

12 December 2020

A "new" disorder of isoleucine catabolism

1 reference

12 December 2020

A Case of Dilated Cardiomyopathy Associated with 3-Hydroxy-3-Methylglutaryl-Coenzyme A (HMG CoA) Lyase Deficiency

1 reference

12 December 2020

A new Japanese case of succinyl-CoA: 3-ketoacid CoA-transferase deficiency

1 reference

12 December 2020

Identification of Alu-mediated, large deletion-spanning introns 19-26 in PHKA2 in a patient with X-linked liver glycogenosis (hepatic phosphorylase kinase deficiency)

1 reference

12 December 2020

A treatable new cause of chorea: beta-ketothiolase deficiency

1 reference

12 December 2020

Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene

1 reference

12 December 2020

Ketonic diet in the management of pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Succinyl-CoA:3-ketoacid transferase (SCOT) deficiency in a new patient homozygous for an R217X mutation

1 reference

12 December 2020

Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies

1 reference

12 December 2020

Patient with Defect in Leucine Metabolism

1 reference

12 December 2020

Identification of Alu-mediated, large deletion-spanning exons 2-4 in a patient with mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

12 December 2020

Succinyl-CoA:3-ketoacid CoA-transferase deficiency

1 reference

12 December 2020

Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

12 December 2020

Two siblings with episodic ketoacidosis and decreased activity of succinyl-CoA:3-ketoacid CoA-transferase in cultured fibroblasts

1 reference

12 December 2020

A new syndrome of ketoacidosis in infancy

1 reference

12 December 2020

Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency

1 reference

12 December 2020

Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening

1 reference

12 December 2020

An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis

1 reference

12 December 2020

Oral beta-hydroxybutyrate supplementation in two patients with hyperinsulinemic hypoglycemia: monitoring of beta-hydroxybutyrate levels in blood and cerebrospinal fluid, and in the brain by in vivo magnetic resonance spectroscopy.

1 reference

12 December 2020

Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations

1 reference

12 December 2020

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure

1 reference

12 December 2020

10.1007/S10545-014-9704-9

Identifiers

DOI

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Dimensions Publication ID

2 August 2017

1022313703

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