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144 results

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Page 1
Clinical and biochemical heterogeneity associated with fumarase deficiency.
Ottolenghi C, Hubert L, Allanore Y, Brassier A, Altuzarra C, Mellot-Draznieks C, Bekri S, Goldenberg A, Veyrieres S, Boddaert N, Barbier V, Valayannopoulos V, Slama A, Chrétien D, Ricquier D, Marret S, Frebourg T, Rabier D, Munnich A, de Keyzer Y, Toulhoat H, de Lonlay P. Ottolenghi C, et al. Among authors: valayannopoulos v. Hum Mutat. 2011 Sep;32(9):1046-52. doi: 10.1002/humu.21534. Epub 2011 Jul 12. Hum Mutat. 2011. PMID: 21560188
Coexistence in the same family of both focal and diffuse forms of hyperinsulinism.
Valayannopoulos V, Vaxillaire M, Aigrain Y, Jaubert F, Bellanné-Chantelot C, Ribeiro MJ, Brunelle F, Froguel P, Robert JJ, Polak M, Nihoul-Fékété C, de Lonlay P. Valayannopoulos V, et al. Diabetes Care. 2007 Jun;30(6):1590-2. doi: 10.2337/dc06-2327. Epub 2007 Mar 23. Diabetes Care. 2007. PMID: 17384337 No abstract available.
Allogeneic bone marrow transplantation in mevalonic aciduria.
Neven B, Valayannopoulos V, Quartier P, Blanche S, Prieur AM, Debré M, Rolland MO, Rabier D, Cuisset L, Cavazzana-Calvo M, de Lonlay P, Fischer A. Neven B, et al. Among authors: valayannopoulos v. N Engl J Med. 2007 Jun 28;356(26):2700-3. doi: 10.1056/NEJMoa070715. N Engl J Med. 2007. PMID: 17596604 Free article.
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: valayannopoulos v. 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
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Boddaert N, Romano S, Funalot B, Rio M, Sarzi E, Lebre AS, Bahi-Buisson N, Valayannopoulos V, Desguerre I, Seidenwurm D, Brunelle F, Brami-Zylberberg F, Rötig A, Munnich A, de Lonlay P. Boddaert N, et al. Among authors: valayannopoulos v. Mol Genet Metab. 2008 Jan;93(1):85-8. doi: 10.1016/j.ymgme.2007.09.003. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17950645
Variable outcome of growth hormone administration in respiratory chain deficiency.
Romano S, Samara D, Crosnier H, Valayannopoulos V, Polak M, Chrétien D, Rötig A, Munnich A, Brauner R, de Lonlay P. Romano S, et al. Among authors: valayannopoulos v. Mol Genet Metab. 2008 Feb;93(2):195-9. doi: 10.1016/j.ymgme.2007.09.007. Epub 2007 Oct 22. Mol Genet Metab. 2008. PMID: 17951089
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: valayannopoulos v. 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
144 results