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Antenatal manifestations of mitochondrial respiratory chain deficiency.
von Kleist-Retzow JC, Cormier-Daire V, Viot G, Goldenberg A, Mardach B, Amiel J, Saada P, Dumez Y, Brunelle F, Saudubray JM, Chrétien D, Rötig A, Rustin P, Munnich A, De Lonlay P. von Kleist-Retzow JC, et al. Among authors: saudubray jm. J Pediatr. 2003 Aug;143(2):208-12. doi: 10.1067/S0022-3476(03)00130-6. J Pediatr. 2003. PMID: 12970634
Clinical presentation of mitochondrial disorders in childhood.
Munnich A, Rötig A, Chretien D, Cormier V, Bourgeron T, Bonnefont JP, Saudubray JM, Rustin P. Munnich A, et al. Among authors: saudubray jm. J Inherit Metab Dis. 1996;19(4):521-7. doi: 10.1007/BF01799112. J Inherit Metab Dis. 1996. PMID: 8884575 Review.
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: saudubray jm. 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.
Hair and skin disorders as signs of mitochondrial disease.
Bodemer C, Rötig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, Rabier D, Munnich A, de Prost Y. Bodemer C, et al. Among authors: saudubray jm. Pediatrics. 1999 Feb;103(2):428-33. doi: 10.1542/peds.103.2.428. Pediatrics. 1999. PMID: 9925836
Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency.
de Lonlay-Debeney P, von Kleist-Retzow JC, Hertz-Pannier L, Peudenier S, Cormier-Daire V, Berquin P, Chrétien D, Rötig A, Saudubray JM, Baraton J, Brunelle F, Rustin P, Van Der Knaap M, Munnich A. de Lonlay-Debeney P, et al. Among authors: saudubray jm. J Pediatr. 2000 Feb;136(2):209-14. doi: 10.1016/s0022-3476(00)70103-x. J Pediatr. 2000. PMID: 10657827
434 results