4.4 Article Proceedings Paper

Inborn errors of ketogenesis and ketone body utilization

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

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

Toshiyuki Fukao et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2011)

Article Endocrinology & Metabolism

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

Toshiyuki Fukao et al.

MOLECULAR GENETICS AND METABOLISM (2010)

Review Endocrinology & Metabolism

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

Wilco C. W. R. Zijlmans et al.

METABOLISM-CLINICAL AND EXPERIMENTAL (2009)

Review Endocrinology & Metabolism

Molecular genetics of HMG-CoA lyase deficiency

Juan Pie et al.

MOLECULAR GENETICS AND METABOLISM (2007)

Review Endocrinology & Metabolism

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

DA Weinstein et al.

MOLECULAR GENETICS AND METABOLISM (2006)

Article Endocrinology & Metabolism

Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency

R Aledo et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2006)

Review Biochemistry & Molecular Biology

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

K Pierre et al.

JOURNAL OF NEUROCHEMISTRY (2005)

Article Clinical Neurology

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

F Bischof et al.

ANNALS OF NEUROLOGY (2004)

Review Nutrition & Dietetics

Ketones: Metabolism's ugly duckling

TB VanItallie et al.

NUTRITION REVIEWS (2003)

Article Genetics & Heredity

2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene

R Ofman et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2003)

Article Pediatrics

Fat oxidation defect presenting with overwhelming ketonuria

E Wraige et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2002)

Article Pediatrics

Safety of the insulin tolerance test

PJ Galloway et al.

ARCHIVES OF DISEASE IN CHILDHOOD (2002)

Article Genetics & Heredity

Genetic basis of mitochondrial HMG-CoA synthase deficiency

R Aledo et al.

HUMAN GENETICS (2001)