Paquay, Stéphanie <br/><br/>
Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.  [electronic resource] 

 -  Journal of inherited metabolic disease  05 2017 
 - 415-422 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1573-2665 
<br/><br/><label>Standard No.: </label>10.1007/s10545-017-0021-y  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acetyl-CoA C-Acetyltransferase--deficiency<br/>Acetyl-CoA C-Acyltransferase--deficiency<br/>Adolescent<br/>Adult<br/>Amino Acid Metabolism, Inborn Errors--metabolism<br/>Basal Ganglia--metabolism<br/>Child<br/>Child, Preschool<br/>Female<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Isoleucine--metabolism<br/>Ketone Bodies--metabolism<br/>Ketosis--metabolism<br/>Male<br/>Mitochondria--metabolism<br/>Neonatal Screening--methods<br/>Retrospective Studies<br/>Young Adult