T2 Deficiency
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1796-1
Reference12 articles.
1. Abdelkreem E, Alobaidy H, Aoyama Y, Mahmoud S, Abd El Aal M, Fukao T (2017) Two Libyan siblings with beta-ketothiolase deficiency: a case report and review of literature. Egypt J Med Human Genet 18:199–203. https://doi.org/10.1016/j.ejmhg.2016.11.001
2. Al-Shamsi A, Hertecant JL, Al-Hamad S, Souid A-K, Al-Jasmi F (2014) Mutation spectrum and birth prevalence of inborn errors of metabolism among Emiratis: a study from Tawam hospital metabolic center, United Arab Emirates. Sultan Qaboos Univ Med J 14:e42
3. Arica V, Arica SG, Dag H, Onur H, Obut Ö, Gülbayzar S (2011) Beta-ketothiolase deficiency brought with lethargy: case report. Hum Exp Toxicol 30:1724–1727. https://doi.org/10.1177/0960327110396533
4. Fukao T, Sasai H, Aoyama Y, Otsuka H, Ago Y, Matsumoto H, Abdelkreem E (2019) Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency. J Hum Genet 64:99–111. https://doi.org/10.1038/s10038-018-0524-x
5. Grünert SC, Sass JO (2020) 2-methylacetoacetyl-coenzyme a thiolase (beta-ketothiolase) deficiency: one disease – two pathways. Orphanet J Rare Dis 15:106. https://doi.org/10.1186/s13023-020-01357-0
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