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Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?
Poll-The BT, Bonnefont JP, Ogier H, Charpentier C, Pelet A, Le Fur JM, Jakobs C, Kok RM, Duran M, Divry P, et al. Poll-The BT, et al. Among authors: charpentier c. J Inherit Metab Dis. 1988;11 Suppl 2:183-5. doi: 10.1007/BF01804230. J Inherit Metab Dis. 1988. PMID: 2846959 No abstract available.
Hyperketotic states due to inherited defects of ketolysis.
Saudubray JM, Specola N, Middleton B, Lombes A, Bonnefont JP, Jakobs C, Vassault A, Charpentier C, Day R. Saudubray JM, et al. Among authors: charpentier c. Enzyme. 1987;38(1-4):80-90. doi: 10.1159/000469194. Enzyme. 1987. PMID: 2894307 Review.
[Multiple biotin-dependent carboxylase deficiencies (author's transl)].
Munnich A, Saudubray JM, Ogier H, Coude FX, Marsac C, Roccichioli F, Labarthe JC, Cazenave C, Laugier J, Charpentier C, Frézal J. Munnich A, et al. Among authors: charpentier c. Arch Fr Pediatr. 1981 Feb;38(2):83-90. Arch Fr Pediatr. 1981. PMID: 6112972 French.
601 results