Beta‐ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency-Reference-Cited by-同舟云学术

Beta‐ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency

Published:2019-03 Issue:1 Volume:46 Page:23-27
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Alijanpour Morteza¹,Sasai Hideo²,Abdelkreem Elsayed²³,Ago Yasuhiko²,Soleimani Shima⁴,Moslemi Leila¹,Yamaguchi Seiji⁵,Rezapour Masomeh⁶,Hakimi Mohammad T.⁴,Matsumoto Hideki²,Fukao Toshiyuki²

Affiliation:

1. Department of Pediatrics Non‐Communicable Pediatric Diseases Research Center, Health Research Institute, Babol University of Medical Sciences Babol IR Iran

2. Department of Pediatrics, Graduate School of Medicine Gifu University Gifu Japan

3. Department of Pediatrics, Faculty of Medicine Sohag University Sohag Egypt

4. Babol Razi Pathobiology Laboratory Babol IR Iran

5. Department of Pediatrics Shimane University School of Medicine Izumo Japan

6. School of Traditional Medicine, Traditional Medicine and History of Medical Sciences Research Center, Health Research Institute, Babol University of Medical Sciences Babol IR Iran

Funder

Japan Agency for Medical Research and Development

Ministry of Education, Culture, Sports, Science and Technology

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12022

Reference13 articles.

1. An Inherited Disorder of Isoleucine Catabolism Causing Accumulation of α-Methylacetoacetate and α-Methyl-β-hydroxybutyrate, and Intermittent Metabolic Acidosis

2. Ketone body metabolism and its defects

3. The Clinical Phenotype and Outcome of Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (β-Ketothiolase or T2 Deficiency) in 26 Enzymatically Proved and Mutation-Defined Patients

4. Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam

Cited by 4 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. Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report;Molecular Genetics and Metabolism Reports;2020-12

2. 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways;Orphanet Journal of Rare Diseases;2020-04-28

3. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl‐CoA thiolase (T2) deficiency;Human Mutation;2019-07-03

4. Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China;Frontiers in Genetics;2019-05-15