Neonatal hypoglycaemia in severe succinyl-CoA:3-oxoacid CoA-transferase deficiency-Reference-Cited by-同舟云学术

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

Published:2001-10 Issue:5 Volume:24 Page:587-595
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Berry G. T.¹²,Fukao T.³,Mitchell G. A.⁴,Mazur A.¹²,Ciafre M.¹²,Gibson J.⁵,Kondo N.³,Palmieri M. J.¹²

Affiliation:

1. ; Department of Pediatrics; University of Pennsylvania School of Medicine; Philadelphia Pennsylvania USA

2. ; Divisions of Endocrinology and Diabetes and Human Genetics and Molecular Biology and Department of Pathology; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania USA

3. ; Department of Pediatrics; Gifu University School of Medicine; Gifu Japan

4. ; Service de Génétique Médicale; Hôpital Sainte-Justine; Montréal Canada

5. ; Department of Pediatrics; The University of Arkansas School of Medicine; Little Rock Arkansas USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1012419911789/fullpdf

Reference19 articles.

1. A new syndrome of ketoacidosis in infancy;Cornblath;J Pediatr,1971

2. Prenatal diagnosis of succinyl-coenzyme A:3-ketoacid coenzyme A transferase deficiency;Fukao;Prenat Diagn,1996

3. Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-CoA: 3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases;Fukao;Pediatr Res,1997

4. 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;Fukao;Genomics,2000

5. A microassay for argininosuccinase in cultured cells;Jacoby;Am J Hum Genet,1972

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