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Lesch-Nyhan syndrome in a girl.
van Bogaert P, Ceballos I, Desguerre I, Telvi L, Kamoun P, Ponsot G. van Bogaert P, et al. Among authors: kamoun p. J Inherit Metab Dis. 1992;15(5):790-1. doi: 10.1007/BF01800022. J Inherit Metab Dis. 1992. PMID: 1434518 No abstract available.
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
Rabier D, Diry C, Rotig A, Rustin P, Heron B, Bardet J, Parvy P, Ponsot G, Marsac C, Saudubray JM, Munnich A, Kamoun P. Rabier D, et al. Among authors: kamoun p. J Inherit Metab Dis. 1998 Jun;21(3):216-9. doi: 10.1023/a:1005391300203. J Inherit Metab Dis. 1998. PMID: 9686360 No abstract available.
Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.
Saudubray JM, de Lonlay P, Touati G, Martin D, Nassogne MC, Castelnau P, Sevin C, Laborde C, Baussan C, Brivet M, Vassault A, Rabier D, Bonnefont JP, Kamoun P. Saudubray JM, et al. Among authors: kamoun p. J Inherit Metab Dis. 2000 May;23(3):197-214. doi: 10.1023/a:1005675827612. J Inherit Metab Dis. 2000. PMID: 10863937 Review. No abstract available.
221 results