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322 results
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Lung involvement in children with lysinuric protein intolerance.
Valimahamed-Mitha S, Berteloot L, Ducoin H, Ottolenghi C, de Lonlay P, de Blic J. Valimahamed-Mitha S, et al. Among authors: de blic j, de lonlay p. J Inherit Metab Dis. 2015 Mar;38(2):257-63. doi: 10.1007/s10545-014-9777-5. Epub 2014 Oct 22. J Inherit Metab Dis. 2015. PMID: 25335805
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
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
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.
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.
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.
Dominantly inherited hyperinsulinaemic hypoglycaemia.
de Lonlay P, Giurgea I, Sempoux C, Touati G, Jaubert F, Rahier J, Ribeiro M, Brunelle F, Nihoul-Fékété C, Robert JJ, Saudubray JM, Stanley C, Bellanné-Chantelot C. de Lonlay P, et al. J Inherit Metab Dis. 2005;28(3):267-76. doi: 10.1007/s10545-005-7057-0. J Inherit Metab Dis. 2005. PMID: 15868462 Review.
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