NMR-based urinalysis for beta-ketothiolase deficiency-Reference-Cited by-同舟云学术

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NMR-based urinalysis for beta-ketothiolase deficiency

Published:2015-01 Issue: Volume:438 Page:222-225
ISSN:0009-8981
Container-title:Clinica Chimica Acta
language:en
Short-container-title:Clinica Chimica Acta

Author:

Law Chun-Yiu,Lam Ching-Wan,Ching Chor-kwan,Yau Kin-Cheong Eric,Ho Tsz-wai,Lai Chi-kong,Mak Chloe Miu

Funder

Food and Health Bureau

Hong Kong Government

Publisher

Elsevier BV

Subject

Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine

Reference26 articles.

1. A “new” disorder of isoleucine catabolism;Daum;Lancet,1971

2. An inherited disorder of isoleucine catabolism causing accumulation of alpha-methylacetoacetate and alpha-methyl-beta -hydroxybutyrate, and intermittent metabolic acidosis;Daum;Pediatr Res,1973

3. Beta-ketothiolase deficiency as a cause of the “ketotic hyperglycinemia syndrome”;Hillman;Pediatrics,1974

4. First report of 3-oxothiolase deficiency in Iran;Shiasi Arani;Int J Endocrinol Metab,2014

5. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism;Sovik;J Inherit Metab Dis,1993

Cited by 6 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. Nuclear magnetic resonance spectroscopy-based urinalysis for a young girl with extreme hypoglycaemia;Pathology;2021-10

2. C4OH is a potential newborn screening marker—a multicenter retrospective study of patients with beta-ketothiolase deficiency in China;Orphanet Journal of Rare Diseases;2021-05-17

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

4. Neonatal Screening for Inherited Metabolic Diseases in 2016;Seminars in Pediatric Neurology;2016-11

5. Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site;Molecular Medicine Reports;2016-10-10

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