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434 results

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Page 1
[Protein glycosylation deficiency: clinical presentation].
Ogier de Baulny H, Poggi-Travert F, Besnard M, Saudubray JM. Ogier de Baulny H, et al. Among authors: saudubray jm. Arch Pediatr. 1996;3 Suppl 1:158s-160s. Arch Pediatr. 1996. PMID: 8796001 French. No abstract available.
[Carbohydrate-deficient blood glycoprotein syndrome].
de Lonlay P, Cormier-Daire V, Vuillaumier-Barrot S, Cuer M, Durand G, Munnich A, Saudubray JM, Seta N. de Lonlay P, et al. Among authors: saudubray jm. Arch Pediatr. 2000 Feb;7(2):173-84. doi: 10.1016/s0929-693x(00)88089-6. Arch Pediatr. 2000. PMID: 10701064 Review. French.
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.
[Molecular tests and metabolic diseases].
de Lonlay P, Giurgea I, Saudubray JM. de Lonlay P, et al. Among authors: saudubray jm. Arch Pediatr. 2003 May;10 Suppl 1:75s-78s. doi: 10.1016/s0929-693x(03)90389-7. Arch Pediatr. 2003. PMID: 14509749 French. No abstract available.
[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.
434 results