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365 results

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Page 1
Facial anomalies in D-2-hydroxyglutaric aciduria.
Amiel J, de Lonlay P, Francannet C, Picard A, Bruel H, Rabier D, Le Merrer M, Verhoeven N, Jakobs C, Lyonnet S, Munnich A. Amiel J, et al. Among authors: de lonlay p. Am J Med Genet. 1999 Sep 10;86(2):124-9. Am J Med Genet. 1999. PMID: 10449646 Review.
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria.
Cosson MA, Touati G, Lacaille F, Valayannnopoulos V, Guyot C, Guest G, Verkarre V, Chrétien D, Rabier D, Munnich A, Benoist JF, de Keyzer Y, Niaudet P, de Lonlay P. Cosson MA, et al. Among authors: de keyzer y, de lonlay p. Mol Genet Metab. 2008 Sep-Oct;95(1-2):107-9. doi: 10.1016/j.ymgme.2008.06.007. Epub 2008 Aug 3. Mol Genet Metab. 2008. PMID: 18676166
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12).
Valayannopoulos V, Hubert L, Benoist JF, Romano S, Arnoux JB, Chrétien D, Kaplan J, Fakhouri F, Rabier D, Rötig A, Lebre AS, Munnich A, de Keyzer Y, de Lonlay P. Valayannopoulos V, et al. Among authors: de keyzer y, de lonlay p. J Inherit Metab Dis. 2009 Apr;32(2):159-62. doi: 10.1007/s10545-009-1023-1. Epub 2009 Mar 13. J Inherit Metab Dis. 2009. PMID: 19277894
Recognition and management of fatty acid oxidation defects: a series of 107 patients.
Saudubray JM, Martin D, de Lonlay P, Touati G, Poggi-Travert F, Bonnet D, Jouvet P, Boutron M, Slama A, Vianey-Saban C, Bonnefont JP, Rabier D, Kamoun P, Brivet M. Saudubray JM, et al. Among authors: de lonlay p. J Inherit Metab Dis. 1999 Jun;22(4):488-502. doi: 10.1023/a:1005556207210. J Inherit Metab Dis. 1999. PMID: 10407781 Review.
[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. Arch Pediatr. 2002 Aug;9(8):822-35. doi: 10.1016/s0929-693x(02)00005-2. Arch Pediatr. 2002. PMID: 12205794 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: de lonlay p. 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.
Efficiency of metabolic screening in childhood cardiomyopathies.
Bonnet D, de Lonlay P, Gautier I, Rustin P, Rötig A, Kachaner J, Acar P, LeBidois J, Munnich A, Sidi D. Bonnet D, et al. Among authors: de lonlay p. Eur Heart J. 1998 May;19(5):790-3. doi: 10.1053/euhj.1997.0818. Eur Heart J. 1998. PMID: 9717014
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
365 results