3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms-Reference-Cited by-同舟云学术

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3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms

Published:1994-11 Issue: Volume:16 Page:38-45
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Ozand P.T.,Rashed M.,Gascon G.G.,Al Odaib A.,Shums A.,Nester M.,Brismar J.

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference32 articles.

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

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

3. Hyperglycinemia with ketosis due to a defect in isoleucine metabolism: a preliminary report;Keating;Pediatrics,1972

4. 3-Oxothiolase activities and [14C]2-methylbutanoic acid incorporation in cultured fibroblasts from 13 cases of suspected 3-oxothiolase deficiency;Iden;Pediatr Res,1990

5. 3-Ketothiolase deficiency;Middleton;Eur J Pediatr,1986

Cited by 43 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. Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report;World Journal of Clinical Cases;2021-10-26

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

3. Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency;Journal of Human Genetics;2018-11-05

4. Neuroimaging Findings of Organic Acidemias and Aminoacidopathies;RadioGraphics;2018-05

5. Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review;Sudanese Journal of Paediatrics;2018

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