title: Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?
authors.affiliation: Hôpital Enfants-Malades, Clinique Génétique Médicale, Paris, France.
authors.forename: B T
authors.initials: BT
authors.lastname: Poll-The
authors.forename: J P
authors.initials: JP
authors.lastname: Bonnefont
authors.forename: H
authors.initials: H
authors.lastname: Ogier
authors.forename: C
authors.initials: C
authors.lastname: Charpentier
authors.forename: A
authors.initials: A
authors.lastname: Pelet
authors.forename: J M
authors.initials: JM
authors.lastname: Le Fur
authors.forename: C
authors.initials: C
authors.lastname: Jakobs
authors.forename: R M
authors.initials: RM
authors.lastname: Kok
authors.forename: M
authors.initials: M
authors.lastname: Duran
authors.forename: P
authors.initials: P
authors.lastname: Divry
mesh_terms: D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D006801:Humans; D006880:Hydroxy Acids / Q000652:urine*; D007003:Hypoglycemia / Q000150:complications / Q000235:genetics* / Q000378:metabolism; D008052:Lipid Metabolism, Inborn Errors / Q000378:metabolism*; D008297:Male; D010084:Oxidation-Reduction; D010523:Peripheral Nervous System Diseases / Q000150:complications* / Q000378:metabolism; D012164:Retinal Diseases / Q000150:complications* / Q000378:metabolism
chemical_list: D005227:Fatty Acids; D006880:Hydroxy Acids