Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis
Author:
Affiliation:
1. CHU Lille, Centre de Biologie Pathologie Génétique, UF Métabolisme Général et Maladies Rares, F-59000 Lille, France
2. CHU Lille, Centre de Référence des Maladies Héréditaires du Métabolisme, F-59000 Lille, France
Publisher
Oxford University Press (OUP)
Subject
Biochemistry (medical),Clinical Biochemistry
Link
http://academic.oup.com/clinchem/article-pdf/65/11/1460/32639471/clinchem1460.pdf
Reference5 articles.
1. Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations;Thümmler;Tohoku J Exp Med,2010
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. Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency;Fukao;J Hum Genet,2019
5. Inborn errors of ketogenesis and ketone body utilization;Sass;J Inherit Metab Dis,2012
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