title: [Floppy female infant with congenital hydrocephalus, hepatic dysfunction and refractory convulsions].
authors.affiliation: anakai@u-fukui.ac.jp
authors.forename: A
authors.initials: A
authors.lastname: Nakai
mesh_terms: D000272:Adipates / Q000652:urine; D015415:Biomarkers; D003652:Decanoic Acids / Q000652:urine; D003937:Diagnosis, Differential; D003998:Dicarboxylic Acids / Q000652:urine; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006849:Hydrocephalus / Q000151:congenital*; D006880:Hydroxy Acids / Q000652:urine; D007231:Infant, Newborn; D008107:Liver Diseases / Q000209:etiology*; D012640:Seizures / Q000209:etiology*; D015211:Zellweger Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology
chemical_list: D000272:Adipates; D015415:Biomarkers; D003652:Decanoic Acids; D003998:Dicarboxylic Acids; D006880:Hydroxy Acids; C049854:2-hydroxysebacic acid; C029900:adipic acid; C011107:sebacic acid