Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature-Reference-Cited by-同舟云学术

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Two Libyan siblings with beta-ketothiolase deficiency: A case report and review of literature

Published:2017-04 Issue:2 Volume:18 Page:199-203
ISSN:1110-8630
Container-title:Egyptian Journal of Medical Human Genetics
language:en
Short-container-title:Egyptian Journal of Medical Human Genetics

Author:

Abdelkreem Elsayed,Alobaidy Hanna,Aoyama Yuka,Mahmoud Shaimaa,Abd El Aal Mohamed,Fukao Toshiyuki

Funder

Ministry of Education, Culture, Sports, Science and Technology of Japan

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical)

Reference30 articles.

1. Ketone body metabolism and its defects;Fukao;J Inherit Metab Dis,2014

2. Inborn errors of ketone body utilization;Hori;Pediatr Int,2015

3. Beta-ketothiolase deficiency: resolving challenges in diagnosis;Abdelkreem;J Inborn Errors Metab Screen,2016

4. 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;Fukao;J Clin Invest,1990

5. A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency;Fukao;Mol Genet Metab,2010

Cited by 7 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. Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature;Clinical Diabetes and Endocrinology;2024-06-10

2. T2 Deficiency;Genetic Syndromes;2023

3. Unexplained Tachypneoa and Severe Metabolic Acidosis in a Three-Month-Old Child: A Rare Presentation of Beta-Ketothiolose Deficiency;Cureus;2022-02-05

4. Characterization and outcome of 11 children with non-diabetic ketoacidosis;Journal of Pediatric Endocrinology and Metabolism;2020-10-09

5. A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis;Indian Journal of Clinical Biochemistry;2019-09-16

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