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Results 1 to 25 of 4293

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GC/MS determination of guanidinoacetate and creatine in urine: A routine method for creatine deficiency syndrome diagnosisNASRALLAH, Fahmi; FEKI, Moncef; BRIAND, Gilbert et al.Clinical biochemistry. 2010, Vol 43, Num 16-17, pp 1356-1361, issn 0009-9120, 6 p.Article

CAMPYLOBACTER JEJUNI ABSCESS, ENCEPHALOMYELITIS, AND ACUTE POLYRADICULONEUROPATHYKAMM, Christian Philipp; KESERUE, Borbala; HUMPERT, Sebastian et al.Muscle & nerve. 2009, Vol 40, Num 5, pp 875-879, issn 0148-639X, 5 p.Article

Hyperammonemia induces transport of taurine and creatine and suppresses claudin-12 gene expression in brain capillary endothelial cells in vitroBELANGER, Mireille; ASASHIMA, Tomoko; OHTSUKI, Sumio et al.Neurochemistry international. 2007, Vol 50, Num 1, pp 95-101, issn 0197-0186, 7 p.Article

Lowered concentrations of branched-chain amino acids result in impaired growth and neurological problems : Insights from a branched-chain α-keto acid dehydrogenase complex kinase-deficient mouse modelWATFORD, Malcolm.Nutrition reviews. 2007, Vol 65, Num 4, pp 167-172, issn 0029-6643, 6 p.Article

PKU is a reversible neurodegenerative process within the nigrostriatum that begins as early as 4 weeks of age in Pahenu2 miceEMBURY, Jennifer E; CHARRON, Catherine E; MARTYNYUK, Anatoly et al.Brain research. 2007, Vol 1127, pp 136-150, issn 0006-8993, 15 p.Article

Hyperprolinemia is not associated with childhood onset schizophreniaJACQUET, Hélène; RAPOPORT, Judith L; HECKETSWEILER, Bernadette et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2006, Vol 141, Num 2, pp 192-192, issn 1552-4841, 1 p.Article

Restoration of learning ability in hyperammonemic rats by increasing extracellular cGMP in brainERCEG, Slaven; MONFORT, Pilar; HEMANDEZ-VIADEL, Mariluz et al.Brain research. 2005, Vol 1036, Num 1-2, pp 115-121, issn 0006-8993, 7 p.Article

Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiencyTAKANASHI, Jun-Ichi; BARKOVICH, A. James; CHENG, Sabrina F et al.American journal of neuroradiology. 2003, Vol 24, Num 3, pp 390-393, issn 0195-6108, 4 p.Article

Disturbance of cultured rat neuronal network activity depends on concentration and ratio of leucine and α-ketoisocaproate: Implication for acute encephalopathy of maple syrup urine diseaseGÖRTZ, Philipp; KOLLER, Hubertus; SCHWAHN, Bernd et al.Pediatric research. 2003, Vol 53, Num 2, pp 320-324, issn 0031-3998, 5 p.Article

Fish odour syndrome with features of both primary and secondary trimethylaminuriaFRASER-ANDREWS, E. A; MANNING, N. J; ASHTON, G. H. S et al.Clinical and experimental dermatology (Print). 2003, Vol 28, Num 2, pp 203-205, issn 0307-6938, 3 p.Article

Genetic evidence that nitric oxide modulates homocysteine: The NOS3 894TT genotype is a risk factor for hyperhomocystenemiaBROWN, Karen S; KLUIJTMANS, Leo A. J; STRAIN, J. J et al.Arteriosclerosis, thrombosis, and vascular biology. 2003, Vol 23, Num 6, pp 1014-1020, issn 1079-5642, 7 p.Article

Hyperhomocysteinemia induces renal hemodynamic dysfunction: Is nitric oxide involved?FISCHER, Patricia A; DOMINGUEZ, Graciela N; CUNIBERTI, Luis A et al.Journal of the American Society of Nephrology. 2003, Vol 14, Num 3, pp 653-660, issn 1046-6673, 8 p.Article

Neonatal screening for citrullinaemiaSANDER, Johannes; JANZEN, Nils; MARQUARDT, Iris et al.European journal of pediatrics. 2003, Vol 162, Num 6, pp 417-420, issn 0340-6199, 4 p.Article

Living-related liver transplantation for methylmalonic acidemia: Report of one caseHSUI, Jui-Yu; CHIEN, Yin-Hsiu; CHU, Shao-Yin et al.Acta paediatrica taiwanica. 2003, Vol 44, Num 3, pp 171-173, issn 1608-8115, 3 p.Article

MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2)KING, Richard A; WILLAERT, Rebecca K; SCHMIDT, Ramona M et al.American journal of human genetics. 2003, Vol 73, Num 3, pp 638-645, issn 0002-9297, 8 p.Article

Maple syrup urine disease in the Austronesian aboriginal tribe Paiwan of Taiwan: a novel DBT (E2) gene 4.7 kb founder deletion caused by a nonhomologous recombination between LINE-1 and Alu and the carrier-frequency determinationCHI, Ching-Shiang; TSAI, Chi-Ren; CHEN, Liang-Hui et al.European journal of human genetics. 2003, Vol 11, Num 12, pp 931-936, issn 1018-4813, 6 p.Article

Oral supplementation corrects plasma lysine concentrations in lysinuric protein intoleranceLUKKARINEN, Mari; NÄNTÖ-SALONEN, Kirsti; PULKKI, Kari et al.Metabolism, clinical and experimental. 2003, Vol 52, Num 7, pp 935-938, issn 0026-0495, 4 p.Article

CT findings in the infantile form of citrullinemiaALHAYRAM, Sait; MURPHY, Kieran J; GAILLOUD, Philippe et al.American journal of neuroradiology. 2002, Vol 23, Num 2, pp 334-336, issn 0195-6108Article

Ca2+ and Na+ dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalonsKÖLKER, Stefan; KÖHR, Georg; AHLEMEYER, Barbara et al.Pediatric research. 2002, Vol 52, Num 2, pp 199-206, issn 0031-3998Article

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiencyENSENAUER, Regina; NIEDERHOFF, Helmut; RUITER, Jos P. N et al.Annals of neurology. 2002, Vol 51, Num 5, pp 656-659, issn 0364-5134Article

Coronary endothelial function in hyperhomocysteinemia: Improvement after treatment with folic acid and cobalamin in patients with coronary artery diseaseWILLEMS, Frank F; AENGEVAEREN, Wim R. M; BOERS, Godfried H. J et al.Journal of the American College of Cardiology. 2002, Vol 40, Num 4, pp 766-772, issn 0735-1097Article

D-2-hydroxyglutaric aciduria and subdural haemorrhageKWONG, K. L; MAK, T; FONG, C. M et al.Acta paediatrica (Oslo). 2002, Vol 91, Num 6, pp 716-718, issn 0803-5253Article

Elevated plasma total homocysteine in severe methionine adenosyltransferase I/III deficiencySTABLER, Sally P; STEEGBORN, Clemens; WAHL, Markus C et al.Metabolism, clinical and experimental. 2002, Vol 51, Num 8, pp 981-988, issn 0026-0495Article

Folic acid treatment reduces chemokine release from peripheral blood mononuclear cells in hyperhomocysteinemic subjectsHOLVEN, Kirsten B; AUKRUST, Pal; HOLM, Torbjørn et al.Arteriosclerosis, thrombosis, and vascular biology. 2002, Vol 22, Num 4, pp 699-703, issn 1079-5642Article

Maple syrup urine disease: Mutation analysis in Turkish patientsDURSUN, A; HENNEKE, M; ÖZGÜL, K et al.Journal of inherited metabolic disease. 2002, Vol 25, Num 2, pp 89-97, issn 0141-8955Article

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