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Glutamyl ribose 5-phosphate storage disease: a hereditary defect in the degradation of poly(ADO-ribosylated)proteinsWILLIAMS, J. C; CHAMBERS, J. P; LIEHR, J. G et al.The Journal of biological chemistry (Print). 1984, Vol 259, Num 2, pp 1037-1042, issn 0021-9258Article

Fatal lipid storage disorderMATSUISHI, T; ONO, E; TERASAWA, K et al.Brain & development (Tokyo. 1979). 1984, Vol 6, Num 3, pp 339-344, issn 0387-7604Article

Thésaurismose à la polyvinylpyrrolidone: révélation inflammatoire après vaccination anti-tétanique = Polyvinylpyrrolidone thesaurismosis. Inflammatory onset after anti-tetanus immunizationADOUE, D; VILAIN, C; DEMBLANS-DESCHAMPS, B et al.La Semaine des hôpitaux de Paris. 1985, Vol 61, Num 1-2, pp 47-49, issn 0037-1777Article

Lymphocytic vacuolization in sialic acid storage diseaseKUSKONMAZ, Baris; UNAL, Sule; CÖRDÜKCÜ, Emine et al.American journal of hematology. 2008, Vol 83, Num 10, pp 821-821, issn 0361-8609, 1 p.Article

SANDO: Another presentation of mitochondrial diseaseOKUN, Michael S; TARIQ BHATTI, M.American journal of ophthalmology. 2004, Vol 137, Num 5, pp 951-953, issn 0002-9394, 3 p.Article

Les dystrophies de la cornée chez l'enfant = Corneal dystrophies in childrenPOULIQUEN, Y; SARAGOUSSI, J.-J.Année thérapeutique et clinique en ophtalmologie. 1983, Vol 34, pp 209-222, issn 0301-4495Article

Lysosomal storage diseases: cellular pathology, clinical and genetic heterogeneity, therapy = Les maladies lysosomiales: pathologie cellulaire, hétérogénéité clinique et génétique, thérapeutiqueREUSER, A. J. J; KROOS, M. A; VISSER, W. J et al.Annales de biologie clinique (Paris). 1994, Vol 52, Num 10, pp 721-728, issn 0003-3898Article

Early detection of lysosomal storage diseasesKOLODNY, E. H.Annals of the New York Academy of Sciences. 1986, Vol 477, pp 312-320, issn 0077-8923Article

Nephrotic Range Protienuria as a Presenting Feature of Classical Nephropathic CystinosisGURDEEP SINGH DHOORIA; HARMESH SINGH BAINS.Indian journal of pediatrics. 2014, Vol 81, Num 7, pp 712-714, issn 0019-5456, 3 p.Article

Jordan's anomaly in a case of Chanarin―Dorfman syndromePIKE, Gillian N; JONES, Simon; COASSIN, Stefan et al.British journal of haematology. 2011, Vol 155, Num 4, issn 0007-1048, p. 412Article

Neutral Lipid Storage Leads to Acylceramide Deficiency, Likely Contributing to the Pathogenesis of Dorfman-Chanarin SyndromeUCHIDA, Yoshikazu; CHO, Yunhi; HOLLERAN, Walter M et al.Journal of investigative dermatology. 2010, Vol 130, Num 10, pp 2497-2499, issn 0022-202X, 3 p.Article

Cysteamine, the Molecule Used To Treat Cystinosis, Potentiates the Antimalarial Efficacy of ArtemisininMIN-OO, Gundula; FORTIN, Anny; FOULIN, Jean-François et al.Antimicrobial agents and chemotherapy. 2010, Vol 54, Num 8, pp 3262-3270, issn 0066-4804, 9 p.Article

A potential new prodrug for the treatment of cystinosis : Design, synthesis and in-vitro evaluationMCCAUGHAN, Bridgeen; KAY, Graeme; KNOTT, Rachel M et al.Bioorganic & medicinal chemistry letters (Print). 2008, Vol 18, Num 5, pp 1716-1719, issn 0960-894X, 4 p.Article

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosisCANNELLI, N; NARDOCCI, N; BERTINI, E et al.Neuropediatrics. 2007, Vol 38, Num 1, pp 46-49, issn 0174-304X, 4 p.Article

The ocular anomalies in a cystinosis animal model mimic disease pathogenesisKALATZIS, Vasiliki; SERRATRICE, Nicolas; MÜLLER, Agnes et al.Pediatric research. 2007, Vol 62, Num 2, pp 156-162, issn 0031-3998, 7 p.Article

First-trimester fetal nuchal translucency and inherited metabolic disordersDE BIASIO, Pierangela; PREFUMO, Federico; CASAGRANDE, Valentina et al.Prenatal diagnosis. 2006, Vol 26, Num 1, pp 77-80, issn 0197-3851, 4 p.Article

High performance liquid chromatography analysis of 2-mercaptoethylamine (cysteamine) in biological samples by derivatization with N-(1-pyrenyl) maleimide (NPM) using fluorescence detectionOGONY, Joshua; MARE, Suneetha; WEI WU et al.Journal of chromatography. B. 2006, Vol 843, Num 1, pp 57-62, issn 1570-0232, 6 p.Article

Slow decline in allograft function in a renal transplant patientSCHAEFER, Heidi M; HELDERMAN, J. Harold; FOGO, Agnes B et al.American journal of kidney diseases. 2006, Vol 48, Num 2, pp 335-338, issn 0272-6386, 4 p.Article

Nephropathic cystinosis : Posterior segment manifestations and effects of cysteamine therapyTSILOU, Ekaterini T; RUBIN, Benjamin I; REED, George et al.Ophthalmology (Rochester, MN). 2006, Vol 113, Num 6, pp 1002-1009, issn 0161-6420, 8 p.Article

COMMD1 (MURR1) as a candidate in patients with copper storage disease of undefined etiologyCORONADO, V. A; BONNEVILLE, J. A; NAZER, H et al.Clinical genetics. 2005, Vol 68, Num 6, pp 548-551, issn 0009-9163, 4 p.Article

High cystine in platelets from patients with nephropathic cystinosis : a chemical, ultrastructural, and functional evaluationOLCAY, L; ERDEMLI, E; KESIMER, M et al.Journal of clinical pathology. 2005, Vol 58, Num 9, pp 939-945, issn 0021-9746, 7 p.Article

Prosaposin deficiency : a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patientELLEDER, M; JERABKOVA, M; HARZER, K et al.Neuropediatrics. 2005, Vol 36, Num 3, pp 171-180, issn 0174-304X, 10 p.Article

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosinKALATZIS, Vasiliki; NEVO, Nathalie; CHERQUI, Stéphanie et al.Human molecular genetics (Print). 2004, Vol 13, Num 13, pp 1361-1371, issn 0964-6906, 11 p.Article

Quantification of free Sialic acid in Urine by HPLC-electrospray tandem mass spectrometry: A tool for the diagnosis of Sialic acid storage diseaseVALIANPOUR, Fredoen; ABELING, Nicolaas G. G. M; DURAN, Marinus et al.Clinical chemistry (Baltimore, Md.). 2004, Vol 50, Num 2, pp 403-409, issn 0009-9147, 7 p.Article

Steatohepatitis and unsuspected micronodular cirrhosis in Dorfman-Chanarin syndrome with documented ABHD5 mutationSRINIVASAN, Ramesh; HADZIC, Nedim; FISCHER, Judith et al.The Journal of pediatrics. 2004, Vol 144, Num 5, pp 662-665, issn 0022-3476, 4 p.Article

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