A new case of succinyl-CoA:acetoacetate transferase deficiency: Favourable course despite very low residual activity-Reference-Cited by-同舟云学术

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

Published:2001-02 Issue:1 Volume:24 Page:81-82
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Barić I.¹,Sarnavka V.¹,Fumić K.²,Maradin M.²,Begović D.¹,Ruiter J. P. N.³,Wanders R. J. A.³

Affiliation:

1. Department of Pediatrics; The Netherlands

2. ; Clinical Institute of Laboratory Diagnosis; University Hospital Center; Zagreb Croatia

3. ; Department of Pediatric Clinical Biochemistry, Academic Medical Center; University of Amsterdam; The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005671109585/fullpdf

Reference4 articles.

1. Succinyl-CoA:acetoacetate tra-nsferase deficiency: identification of a new patient with a neonatal onset and review of the literature;Niezen-Koning;Eur J Pediatr,1997

2. Succinyl-CoA:3-ketoacid-CoA-transferase de¢ciency;Snyderman;Pediatrics,1998

3. Succinyl-CoA-3-ketoacid-CoA transferase deficiency: a new phenotype;Spence;Pediatr Res,1973

4. Succinyl-CoA:3-ketoacid-CoA transferase deficiency: a cause for ketoacidosis in infancy;Tildon;J Clin Invest,1972

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency;Yonsei Medical Journal;2019

2. A Case of Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Presenting with Severe Acidosis in a 14-Month-Old Female: Evidence for Pathogenicity of a Point Mutation in the OXCT1 Gene;Journal of Pediatric Intensive Care;2017-07-19

3. Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosis;Journal of Inherited Metabolic Disease;2017-07-10

4. A Turkish Patient With Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency Mimicking Diabetic Ketoacidosis;Journal of Inborn Errors of Metabolism and Screening;2016-06-03

5. Inborn errors of ketone body utilization;Pediatrics International;2015-02

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