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Page 1
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.
Metabolic intermediates in lactic acidosis: compounds, samples and interpretation.
Poggi-Travert F, Martin D, Billette de Villemeur T, Bonnefont JP, Vassault A, Rabier D, Charpentier C, Kamoun P, Munnich A, Saudubray JM. Poggi-Travert F, et al. Among authors: saudubray jm. J Inherit Metab Dis. 1996;19(4):478-88. doi: 10.1007/BF01799109. J Inherit Metab Dis. 1996. PMID: 8884572 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
Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood.
de Lonlay-Debeney P, Edery P, Cormier-Daire V, Parfait B, Chrétien D, Rötig A, Romero N, Saudubray JM, Munnich A, Rustin P. de Lonlay-Debeney P, et al. Among authors: saudubray jm. Neuropediatrics. 1999 Feb;30(1):42-4. doi: 10.1055/s-2007-973456. Neuropediatrics. 1999. PMID: 10222461
434 results