(Q37863517)

24 August 2017

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title

Inborn errors of ketogenesis and ketone body utilization (English)

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24 August 2017

Jörn Oliver Sass

1

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24 August 2017

publication date

9 April 2011

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Journal of Inherited Metabolic Disease

24 August 2017

published in

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24 August 2017

volume

35

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24 August 2017

issue

1

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24 August 2017

page(s)

23-28

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Genetic basis of mitochondrial HMG-CoA synthase deficiency

24 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

A " NEW " DISORDER OF ISOLEUCINE CATABOLISM

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Safety of the insulin tolerance test

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

21 January 2018

11 Ketotic hypoglycaemia

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Metabolic profiling of infant urine using comprehensive two-dimensional gas chromatography: Application to the diagnosis of organic acidurias and biomarker discovery

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Ketone bodies: a review of physiology, pathophysiology and application of monitoring to diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Molecular genetics of HMG-CoA lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Diabetic ketoacidosis at diagnosis in Austrian children in 1989-2008: a population-based analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Ketones: Metabolism's Ugly Duckling

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Fat oxidation defect presenting with overwhelming ketonuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

Glucose metabolism in children: influence of age, fasting, and infectious diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-011-9324-6

3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia

21 January 2018

1 reference

12 December 2020

Molecular cloning and characterization of (R)-3-hydroxybutyrate dehydrogenase from human heart

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

A "new" disorder of isoleucine catabolism

1 reference

12 December 2020

3-Hydroxy-3-methylglutaric aciduria: response to carnitine therapy and fat and leucine restriction

1 reference

12 December 2020

Monocarboxylate transporters in the central nervous system: distribution, regulation and function.

1 reference

12 December 2020

Ketotic hypoglycaemia presenting as a life-threatening situation in a child with amelia

1 reference

12 December 2020

Patient with Defect in Leucine Metabolism

1 reference

12 December 2020

Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

1 reference

12 December 2020

Hyperglycemia, keto-acidosis and coma in a nondiabetic hyperthyroid patient

1 reference

12 December 2020

MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency.

1 reference

12 December 2020

CT and MR of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency

1 reference

12 December 2020

Medical aspects of ketone body metabolism.

1 reference

12 December 2020

10.1007/S10545-011-9324-6

Identifiers

DOI

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24 August 2017

1 reference