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Neuronal Forms of Gaucher DiseaseVITNER, Einat B; FUTERMAN, Anthony H.Handbook of experimental pharmacology. 2013, Vol 216, pp 405-419, issn 0171-2004, 15 p.Article

... sous le caleçon = ... under underpantsHELLO, M; BARBAROT, S.Images en dermatologie. 2012, Vol 5, Num 2-3, issn 1964-4167, p. 46Article

Magnetic resonance spectroscopy in patients with Fabry and Gaucher diseaseGRUBER, S; BOGNER, W; STADLBAUER, A et al.European journal of radiology. 2011, Vol 79, Num 2, pp 295-298, issn 0720-048X, 4 p.Article

Cerebrospinal fluid biomarkers showing neurodegeneration in dogs with GM1 gangliosidosis : Possible use for assessment of a therapeutic regimenSATOH, Hiroyuki; YAMATO, Osamu; ASANO, Tomoya et al.Brain research. 2007, Vol 1133, pp 200-208, issn 0006-8993, 9 p.Article

Maladie de Gaucher. Compte-rendu des Secondes Rencontres Multidisciplinaires sur la maladie de Gaucher (Paris, 12 et 13 mai 2006) = Gaucher disease. Report on the Second Multidisciplinary Meeting on Gaucher disease (Paris, May 12-13, 2006)La Revue de médecine interne (Paris). 2007, Vol 28, issn 0248-8663, 42 p., SUP2Conference Proceedings

Aspects hématologiques de la maladie de Gaucher = Hematological aspects of Gaucher diseaseCOSTELLO, R; O'CALLAGHAN, T; BACCINI, V et al.La Revue de médecine interne (Paris). 2007, Vol 28, issn 0248-8663, S176-S179, SUP2Conference Paper

De « l'épithélioma primitif de la rate » à la maladie de Gaucher, une thèse visionnaire ? = From « primitive spleen epithelioma » to Gaucher's disease. Story of a forerunnerKAHN, M.-F.La Revue de médecine interne (Paris). 2007, Vol 28, issn 0248-8663, S206-S210, SUP2Conference Paper

Manifestations neurologiques de la maladie de Fabry = Neurological aspects of Fabry diseaseCLAVELOU, Pierre; BESSON, Gérard.La Presse médicale (1983). 2007, Vol 36, issn 0755-4982, 1S65-1S68, HS1Conference Paper

Évaluation fonctionnelle rénale de la maladie de Fabry = Functional renal investigation in Fabry diseaseFROISSART, Marc; BENISTAN, Karelle; GERMAIN, Dominique P et al.La Presse médicale (1983). 2007, Vol 36, issn 0755-4982, 1S36-1S42, HS1Conference Paper

Type B Niemann-Pick disease: Findings at Chest radiography, thin-section CT, and pulmonary function testingMENDELSON, David S; WASSERSTEIN, Melissa P; COX, Gerald F et al.Radiology. 2006, Vol 238, Num 1, pp 339-345, issn 0033-8419, 7 p.Article

Substance P immunoreactive cell reductions in cerebral cortex of Niemann-Pick disease type C mouseMYEUNG JU KIM; KIM, Jaewoo; HUTCHINSON, Brian et al.Brain research. 2005, Vol 1043, Num 1-2, pp 218-224, issn 0006-8993, 7 p.Article

Membrane biology : Role of cholesterol and lipid organization in diseaseMAXFIELD, Frederick R; TABAS, Ira.Nature (London). 2005, Vol 438, Num 7068, pp 612-621, issn 0028-0836, 10 p.Article

La maladies de Fabry : de la découverte des lysosomes à l'avènement de la thérapeutique : Atteinte vasculaire et remodelage ventriculaire gauche dans la maladie de Fabry = Fabry disease: from the discovery of lysosomes to enzyme replacement therapy : Large artery and left ventricular remodelling in Fabry diseaseBOUTOUYRIE, Pierre; MOUSSEAUX, Elie; COCHETEUX, Benjamin et al.MS. Médecine sciences. 2005, Vol 21, pp 30-32, issn 0767-0974, 3 p., NSConference Paper

La maladies de Fabry : de la découverte des lysosomes à l'avènement de la thérapeutique : Quantification et spéciation du globotriaosylcéramide = Fabry disease: from the discovery of lysosomes to enzyme replacement therapy : Quantification and speciation of globotriaosylceramideROY, Sandrine; GERMAIN, Dominique P; BAILLET, Ariette et al.MS. Médecine sciences. 2005, Vol 21, pp 51-52, issn 0767-0974, 2 p., NSConference Paper

La maladies de Fabry : de la découverte des lysosomes à l'avènement de la thérapeutique : Rein et maladie de Faary : mécanismes de progression et de régression de la fibrose rénale vasculaire = Fabry disease: from the discovery of lysosomes to enzyme replacement therapy : Kidney and fabry disease : mechanisms of renal vascular fibrosisCHATZIANTONIOU, Christos; DUSSAULE, Jean-Claude.MS. Médecine sciences. 2005, Vol 21, pp 20-22, issn 0767-0974, 3 p., NSConference Paper

Maladie de gaucher de type 1 chez l'adulte: Prise en charge nutritionnelle lors de la mise en place d'un traitement par miglustat = Type 1 Gaucher's disease in the adult: Nutritional management during initiation of treatment with miglustatDECHELOTTE, Pierre.La Presse médicale (1983). 2004, Vol 33, Num 7, pp 494-496, issn 0755-4982, 3 p.Article

Aspartoacylase deficiency does not affect N-acetylaspartylglutamate level or glutamate carboxypeptidase II activity in the knockout mouse brainSURENDRAN, Sankar; EZELL, Edward L; QUAST, Michael J et al.Brain research. 2004, Vol 1016, Num 2, pp 268-271, issn 0006-8993, 4 p.Article

Homozygous loss of a cysteine residue in the glucocerebrosidase gene results in Gaucher's disease with a hydropic phenotypeCHURCH, Heather J; COOPER, Alan; STEWART, Fiona et al.European journal of human genetics. 2004, Vol 12, Num 11, pp 975-978, issn 1018-4813, 4 p.Article

Imiglucerase low-dose therapy for paediatric Gaucher disease: a long-term cohort studyHEITNER, R; ARNDT, S; LEVIN, J. B et al.SAMJ. South African medical journal. 2004, Vol 94, Num 8, pp 647-651, issn 0256-9574, 5 p.Article

Late onset neurodegeneration in the Cln3-/- mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activationPONTIKIS, Charlie C; CELLA, Claire V; PARIHAR, Nisha et al.Brain research. 2004, Vol 1023, Num 2, pp 231-242, issn 0006-8993, 12 p.Article

Sleep problems in children with common medical disordersBANDLA, Hari; SPLAINGARD, Mark.The Pediatric clinics of North America. 2004, Vol 51, Num 1, issn 0031-3955, viii, 203-227 [26 p.]Article

Regression of diaphyseal multiloculated bone cyst in familial steroid dehydrogenase deficiencyKHORSHEED, Sahar S; NAZER, Hisham; HUGOSSON, Claes et al.Journal of pediatric gastroenterology and nutrition. 2003, Vol 36, Num 4, pp 479-481, issn 0277-2116, 3 p.Article

A patient with type 2 gaucher's disease with respiratory diseaseSHEBANI, Eyman; JOHANNESSON, Marie; STRÖMBERG, Bo et al.The Journal of pediatrics. 2003, Vol 142, Num 2, pp 209-210, issn 0022-3476, 2 p.Article

Canavan's leukodystrophy is associated with defects in cochlear neurodevelopment and deafnessISHIYAMA, Gail; LOPEZ, Ivan; BALOH, Robert W et al.Neurology. 2003, Vol 60, Num 10, pp 1702-1704, issn 0028-3878, 3 p.Article

Clinical variability of type II sialidosis by C808T mutationRODRIGUEZ CRIADO, G; PSHEZHETSKY, A. V; RODRIGUEZ BECERRA, A et al.American journal of medical genetics. 2003, Vol 116A, Num 4, pp 368-371, issn 0148-7299, 4 p.Article

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