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Page 1
D-2-hydroxyglutaric aciduria: further clinical delineation.
van der Knaap MS, Jakobs C, Hoffmann GF, Duran M, Muntau AC, Schweitzer S, Kelley RI, Parrot-Roulaud F, Amiel J, De Lonlay P, Rabier D, Eeg-Olofsson O. van der Knaap MS, et al. Among authors: de lonlay p. J Inherit Metab Dis. 1999 Jun;22(4):404-13. doi: 10.1023/a:1005548005393. J Inherit Metab Dis. 1999. PMID: 10407777
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.
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.
Genetic hypoglycaemia in infancy and childhood: pathophysiology and diagnosis.
Saudubray JM, de Lonlay P, Touati G, Martin D, Nassogne MC, Castelnau P, Sevin C, Laborde C, Baussan C, Brivet M, Vassault A, Rabier D, Bonnefont JP, Kamoun P. Saudubray JM, et al. Among authors: de lonlay p. J Inherit Metab Dis. 2000 May;23(3):197-214. doi: 10.1023/a:1005675827612. J Inherit Metab Dis. 2000. PMID: 10863937 Review. No abstract available.
Long-term outcome in methylmalonic aciduria: a series of 30 French patients.
Cosson MA, Benoist JF, Touati G, Déchaux M, Royer N, Grandin L, Jais JP, Boddaert N, Barbier V, Desguerre I, Campeau PM, Rabier D, Valayannopoulos V, Niaudet P, de Lonlay P. Cosson MA, et al. Among authors: de lonlay p. Mol Genet Metab. 2009 Jul;97(3):172-8. doi: 10.1016/j.ymgme.2009.03.006. Epub 2009 Mar 24. Mol Genet Metab. 2009. PMID: 19375370
Treatment of acute decompensation of maple syrup urine disease in adult patients with a new parenteral amino-acid mixture.
Servais A, Arnoux JB, Lamy C, Hummel A, Vittoz N, Katerinis I, Bazzaoui V, Dubois S, Broissand C, Husson MC, Berleur MP, Rabier D, Ottolenghi C, Valayannopoulos V, de Lonlay P. Servais A, et al. Among authors: de lonlay p. J Inherit Metab Dis. 2013 Nov;36(6):939-44. doi: 10.1007/s10545-012-9570-2. Epub 2012 Dec 19. J Inherit Metab Dis. 2013. PMID: 23250513 Clinical Trial.
Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease.
Brassier A, Boyer O, Valayannopoulos V, Ottolenghi C, Krug P, Cosson MA, Touati G, Arnoux JB, Barbier V, Bahi-Buisson N, Desguerre I, Charbit M, Benoist JF, Dupic L, Aigrain Y, Blanc T, Salomon R, Rabier D, Guest G, de Lonlay P, Niaudet P. Brassier A, et al. Among authors: de lonlay p. Mol Genet Metab. 2013 Sep-Oct;110(1-2):106-10. doi: 10.1016/j.ymgme.2013.05.001. Epub 2013 May 14. Mol Genet Metab. 2013. PMID: 23751327
358 results