Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency

Authors:	L.?Mrázová author-information" > author-information__contact u-icon-before" > mailto:LMRAZ@LF.CUNI.CZ" title=" LMRAZ@LF.CUNI.CZ" itemprop=" email" data-track=" click" data-track-action=" Email author" data-track-label=" " >Email author,T.?Fukao,K.?Hálovd,E.?Gregová,V.?Kohút,D.?P?ibyl,P.?Chrastina,N.?Kondo,E.?Pospi?ilová

Affiliation:	(1) Institute of Inherited Metabolic Diseases, General Faculty Hospital & Charles University 1st Faculty of Medicine, Prague, Czech Republic;(2) Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan;(3) Pediatric Clinic, USA;(4) Department of Clinical Chemistry, F. D. Roosevelt Hospital, Banská Bystrica, Slovak Republic;(5) UDMP, Ke Karlovu 2, Praha 2, 128 02, Czech Republic

Abstract:	Summary We report a new patient with acetoacetyl-CoA thiolase deficiency in whom we found two new missense mutations.

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