Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?
Poll-The
B T
BT
Hôpital Enfants-Malades, Clinique Génétique Médicale, Paris, France.
Bonnefont
J P
JP
Ogier
H
H
Charpentier
C
C
Pelet
A
A
Le Fur
J M
JM
Jakobs
C
C
Kok
R M
RM
Duran
M
M
Divry
P
P
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
D005227:Fatty Acids; D006880:Hydroxy Acids