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Page 1
Risk assessment of acute vascular events in congenital disorder of glycosylation type Ia.
Arnoux JB, Boddaert N, Valayannopoulos V, Romano S, Bahi-Buisson N, Desguerre I, de Keyzer Y, Munnich A, Brunelle F, Seta N, Dautzenberg MD, de Lonlay P. Arnoux JB, et al. Among authors: de keyzer y, de lonlay p. Mol Genet Metab. 2008 Apr;93(4):444-9. doi: 10.1016/j.ymgme.2007.11.006. Epub 2008 Feb 21. Mol Genet Metab. 2008. PMID: 18093857
Development of liver disease despite mannose treatment in two patients with CDG-Ib.
Mention K, Lacaille F, Valayannopoulos V, Romano S, Kuster A, Cretz M, Zaidan H, Galmiche L, Jaubert F, de Keyzer Y, Seta N, de Lonlay P. Mention K, et al. Among authors: de keyzer y, de lonlay p. Mol Genet Metab. 2008 Jan;93(1):40-3. doi: 10.1016/j.ymgme.2007.08.126. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17945525
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
Conotruncal heart defects in three patients with congenital disorder of glycosylation type Ia (CDG Ia).
Romano S, Bajolle F, Valayannopoulos V, Lyonnet S, Colomb V, de Baracé C, Vouhe P, Pouard P, Vuillaumier-Barrot S, Dupré T, de Keyzer Y, Sidi D, Seta N, Bonnet D, de Lonlay P. Romano S, et al. Among authors: de keyzer y, de barace c, de lonlay p. J Med Genet. 2009 Apr;46(4):287-8. doi: 10.1136/jmg.2008.057620. J Med Genet. 2009. PMID: 19357119 No abstract available.
Dihydrolipoamide dehydrogenase deficiency: a still overlooked cause of recurrent acute liver failure and Reye-like syndrome.
Brassier A, Ottolenghi C, Boutron A, Bertrand AM, Valmary-Degano S, Cervoni JP, Chrétien D, Arnoux JB, Hubert L, Rabier D, Lacaille F, de Keyzer Y, Di Martino V, de Lonlay P. Brassier A, et al. Among authors: de keyzer y. Mol Genet Metab. 2013 May;109(1):28-32. doi: 10.1016/j.ymgme.2013.01.017. Epub 2013 Feb 1. Mol Genet Metab. 2013. PMID: 23478190
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
What's new in metabolic and genetic hypoglycaemias: diagnosis and management.
Valayannopoulos V, Romano S, Mention K, Vassault A, Rabier D, Polak M, Robert JJ, de Keyzer Y, de Lonlay P. Valayannopoulos V, et al. Among authors: de keyzer y, de lonlay p. Eur J Pediatr. 2008 Mar;167(3):257-65. doi: 10.1007/s00431-007-0600-2. Epub 2007 Oct 3. Eur J Pediatr. 2008. PMID: 17912550 Review.
Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
Barth M, Ottolenghi C, Hubert L, Chrétien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P. Barth M, et al. Among authors: de keyzer y. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S443-53. doi: 10.1007/s10545-010-9227-y. Epub 2010 Oct 27. J Inherit Metab Dis. 2010. PMID: 20978941
58 results