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434 results

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Page 1
[Clinical aspects of hereditary peroxisomal disorders].
Billette de Villemeur T, Poll The BT, Saudubray JM. Billette de Villemeur T, et al. Among authors: saudubray jm. Minerva Pediatr. 1991 Mar;43(3):115-23. Minerva Pediatr. 1991. PMID: 1870505 Review. French. No abstract available.
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Coutelier M, Goizet C, Durr A, Habarou F, Morais S, Dionne-Laporte A, Tao F, Konop J, Stoll M, Charles P, Jacoupy M, Matusiak R, Alonso I, Tallaksen C, Mairey M, Kennerson M, Gaussen M, Schule R, Janin M, Morice-Picard F, Durand CM, Depienne C, Calvas P, Coutinho P, Saudubray JM, Rouleau G, Brice A, Nicholson G, Darios F, Loureiro JL, Zuchner S, Ottolenghi C, Mochel F, Stevanin G. Coutelier M, et al. Among authors: saudubray jm. Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29. Brain. 2015. PMID: 26026163 Free PMC article.
[Diagnosis of metabolic coma in children].
Poggi-Travert F, Héron B, Billette de Villemeur T, Spada M, Jouvet P, Charpentier C, Rabier D, Kamoun P, Saudubray JM. Poggi-Travert F, et al. Among authors: saudubray jm. Arch Pediatr. 1994 Sep;1(9):843-51. Arch Pediatr. 1994. PMID: 7842129 Review. French.
[Monoamine decarboxylase deficiency].
Billette de Villemeur T, de Lonlay P, Poggi-Travert F, Martin D, Launay JM, Munnich A, Saudubray JM. Billette de Villemeur T, et al. Among authors: saudubray jm. Arch Pediatr. 1996;3 Suppl 1:167s-168s. doi: 10.1016/0929-693x(96)86029-5. Arch Pediatr. 1996. PMID: 8796004 French. No abstract available.
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.
Dicarboxylic aminoaciduria.
Kamoun P, Parvy P, Rabier D, Bardet J, Billette de Villemeur T, Saudubray JM. Kamoun P, et al. Among authors: saudubray jm. J Inherit Metab Dis. 1994;17(6):758. doi: 10.1007/BF00712024. J Inherit Metab Dis. 1994. PMID: 7707705 No abstract available.
[Hematologic manifestations of inborn errors of metabolism].
de Lonlay P, Fenneteau O, Touati G, Mignot C, Billette de Villemeur T, Rabier D, Blanche S, Ogier de Baulny H, Saudubray JM. de Lonlay P, et al. Among authors: saudubray jm. Arch Pediatr. 2002 Aug;9(8):822-35. doi: 10.1016/s0929-693x(02)00005-2. Arch Pediatr. 2002. PMID: 12205794 Review. French.
434 results