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Place des maladies hérédiatires du métabolisme dans la pathologie pédiatrique en 1994 = Place of inborn errrors of metabolism in pediatrics (1994)SAUDUBRAY, J. M.Archives de pédiatrie (Paris). 1994, Vol 1, Num 7, pp 623-628, issn 0929-693XArticle

Inborn errors of metabolismSAUDUBRAY, J. M.Seminars in neonatology. 2002, Vol 7, Num 1, issn 1084-2756, 101 p.Serial Issue

Branched-chain organic aciduriasOGIER DE BAULNY, H; SAUDUBRAY, J. M.Seminars in neonatology. 2002, Vol 7, Num 1, pp 65-74, issn 1084-2756Article

Place des maladies lysosomales dans les maladies métaboliques = Status of lysosomal diseases amongst metabolic diseasesSAUDUBRAY, J.-M.La Revue de médecine interne (Paris). 2006, Vol 27, issn 0248-8663, S11-S13, SUP1Article

L'alimentation avant la grossesse ou en période de maternité d'un sujet atteint de phénylcétonurie = Nutrition before pregnancy and maternal period of subjects with phenylketonuriaSAUDUBRAY, J. M; DEPONDT, E.Cahiers de nutrition et de diététique. 1992, Vol 27, Num 2, pp 124-128, issn 0007-9960Article

Les maladies héréditaires du métabolisme à l'âge adulte = Inborn errors of metabolism in adultsSAUDUBRAY, J.-M; SEDEL, F.Annales d'endocrinologie. 2009, Vol 70, Num 1, pp 14-24, issn 0003-4266, 11 p.Article

Les cytopathies mitochondriales = Mytochondrial cytopathiesMUNNICH, A; SAUDUBRAY, J. M.Archives françaises de pédiatrie. 1991, Vol 48, Num 3, pp 163-166, issn 0003-9764Article

Clinical approach to inherited metabolic disorders in neonates: an overviewSAUDUBRAY, J. M; NASSOGNE, M. C; DE LONLAY, P et al.Seminars in neonatology. 2002, Vol 7, Num 1, pp 3-15, issn 1084-2756Article

Les acidémies organiques: attitudes diagnostique et thérapeutique = Organic acidemia: diagnostic and treatmentMONASTIRI, K; SAUDUBRAY, J. M; SNOUSSI, N et al.MHA (Sousse). 1993, Vol 5, Num 12, pp 35-37, issn 0330-8030Conference Paper

Les maladies métaboliques héréditaires traitables en neurologie : Maladies métaboliques = Treatable hereditary neuro-metabolic diseasesSEDEL, F; LYON-CAEN, O; SAUDUBRAY, J.-M et al.Revue neurologique (Paris). 2007, Vol 163, Num 10, pp 884-896, issn 0035-3787, 13 p.Article

Lysosomal disordersWRAITH, J. E.Seminars in neonatology. 2002, Vol 7, Num 1, pp 75-83, issn 1084-2756Article

Inherited disorders of mitochondrial fatty acid oxidation: a new responsibility for the neonatologistROE, Charles R.Seminars in neonatology. 2002, Vol 7, Num 1, pp 37-47, issn 1084-2756Article

Inborn errors presenting with liver dysfunctionCLAYTON, Peter T.Seminars in neonatology. 2002, Vol 7, Num 1, pp 49-63, issn 1084-2756Article

Orientation des investigations biochimiques dans le diagnostic des maladies affectant le système nerveux de l'enfant : Régressions neurologiques et mentales. I = The indications given by biochemical investigations in the diagnosis of child diseases with neurological disordersSAUDUBRAY, J.-M; POGGI, F; BILLETTE DE VILLEMEUR, T et al.La Médecine infantile (Paris). 1993, Vol 100, Num 6, pp 445-452, issn 0025-6773Article

Biochimie du peroxysome et maladies peroxysomiales = Biochemistry of peroxisome and peroxysomal diseaseVAMECQ, J; POLL-THE, B. T; SAUDUBRAY, J. M et al.Annales de biologie clinique (Paris). 1988, Vol 46, Num 4, pp 233-258, issn 0003-3898Article

Management and emergency treatments of neonates with a suspicion of inborn errors of metabolismOGIER DE BAULNY, Hélène.Seminars in neonatology. 2002, Vol 7, Num 1, pp 17-26, issn 1084-2756Article

Dihydropteridine reductase deficiency : Levodopa's long-term effectiveness without dyskinesiaSEDEL, F; RIBEIRO, M. J; REMY, P et al.Neurology. 2006, Vol 67, Num 12, pp 2243-2245, issn 0028-3878, 3 p.Article

Trends in serum citrulline and acute rejection among recipients of small bowel transplantsPAPPAS, P. A; TZAKIS, A. G; NISHIDA, S et al.Transplantation proceedings. 2004, Vol 36, Num 2, pp 345-347, issn 0041-1345, 3 p.Conference Paper

Clinical features of 52 neonates with hyperinsulinismDE LONLAY-DEBENEY, P; POGGI-TRAVERT, F; ROBERT, J.-J et al.The New England journal of medicine. 1999, Vol 340, Num 15, pp 1169-1175, issn 0028-4793Article

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency : A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannoseDE LONLAY, P; CUER, M; VUILLAUMIER-BARROT, S et al.The Journal of pediatrics. 1999, Vol 135, Num 3, pp 379-383, issn 0022-3476Article

Respiratory chain deficiency presenting as recurrent myoglobinuria in childhoodDE LONLAY-DEBENEY, P; EDERY, P; CORMIER-DAIRE, V et al.Neuropediatrics. 1999, Vol 30, Num 1, pp 42-44, issn 0174-304XConference Paper

First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complexROUILLAC, C; ARAL, B; BENELLI, C et al.Prenatal diagnosis. 1999, Vol 19, Num 12, pp 1160-1164, issn 0197-3851Article

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiencyDUPUIS, L; LEON-DEL-RIO, A; LECLERC, D et al.Human molecular genetics (Print). 1996, Vol 5, Num 7, pp 1011-1016, issn 0964-6906Article

Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expressionBONNEFONT, J.-P; TARONI, F; CAVADINI, P et al.American journal of human genetics. 1996, Vol 58, Num 5, pp 971-978, issn 0002-9297Article

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)RÖTIG, A; CORMIER, V; CHATELAIN, P et al.Journal of inherited metabolic disease. 1993, Vol 16, Num 3, pp 527-530, issn 0141-8955Article

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