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A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases.
de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V. de Lonlay P, et al. Among authors: saudubray jm. J Med Genet. 2001 Jan;38(1):14-9. doi: 10.1136/jmg.38.1.14. J Med Genet. 2001. PMID: 11134235 Free PMC article.
Liver transplantation in propionic acidaemia.
Saudubray JM, Touati G, Delonlay P, Jouvet P, Schlenzig J, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2:S65-9. doi: 10.1007/pl00014325. Eur J Pediatr. 1999. PMID: 10603102
Liver transplantation in urea cycle disorders.
Saudubray JM, Touati G, Delonlay P, Jouvet P, Narcy C, Laurent J, Rabier D, Kamoun P, Jan D, Revillon Y. Saudubray JM, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2:S55-9. doi: 10.1007/pl00014323. Eur J Pediatr. 1999. PMID: 10603100
434 results