Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?
作者信息
Poll-The B T, Bonnefont J P, Ogier H, Charpentier C, Pelet A, Le Fur J M, Jakobs C, Kok R M, Duran M, Divry P
机构信息
Hôpital Enfants-Malades, Clinique Génétique Médicale, Paris, France.