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Results 1 to 25 of 2878

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Lipoid proteinosis : A case reportRIZZO, R; RUGGIERI, M; MICALI, G et al.Pediatric dermatology. 1997, Vol 14, Num 1, pp 22-25, issn 0736-8046Conference Paper

Fluorescence-based diagnosis of lipid storage diseases by analysis of the culture medium of skin fibroblastsVERED, A; EUGENIO, M; ARIE, D et al.Clinica chimica acta. 1993, Vol 218, Num 2, pp 139-147, issn 0009-8981Article

Wolman's disease in an infantBROWNE, Martin; SOMERS, Gino; SAVOIA, Helen et al.British journal of haematology. 2003, Vol 122, Num 4, issn 0007-1048, p. 522Article

Clinical features and molecular genetic basis of the neuronal ceroid lipofuscinosesGARDINER, R. Mark.Advances in neurology. 2002, Vol 89, pp 211-215, issn 0091-3952, 5 p.Conference Paper

Consanguin : Journées francophones de pathologie digestive = Lipoid proteinosisFENNICHE, Samy; BEN AMMAR, Feiza; KHAYAT, Olfa et al.Concours médical (Paris). 2003, Vol 125, Num 20, pp 1149-1150, issn 0010-5309, 2 p.Article

Juvenile neuronal ceroid lipofuscinosisGULATI, Sheffali; MAHESHWARI, Rajesh; KABRA, Madhulika et al.Indian journal of pediatrics. 2000, Vol 67, Num 9, pp 689-691, issn 0019-5456Conference Paper

Gaucher disease and myelodysplastic syndrome with isolated del(5q)VILLARRUBIA, Jesús; RODRIGUEZ-GAMBARTE, Juan D; ABALO, Lorena et al.British journal of haematology. 2014, Vol 165, Num 2, issn 0007-1048, p. 164Article

Niemann-Pick type C Suspicion Index tool: analyses by age and association of manifestationsWRAITH, James E; SEDEL, Frédéric; PINEDA, Mercèdes et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 1, pp 93-101, issn 0141-8955, 9 p.Article

Patients with Fabry Disease after Enzyme Replacement Therapy Dose Reduction Versus Treatment SwitchWEIDEMANN, Frank; KRÄMER, Johannes; STÖRK, Stefan et al.Journal of the American Society of Nephrology. 2014, Vol 25, Num 4, pp 837-849, issn 1046-6673, 13 p.Article

Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapyVAN DUSSEN, L; HENDRIKS, E. J; GROENER, J. E. M et al.Journal of inherited metabolic disease. 2014, Vol 37, Num 6, pp 991-1001, issn 0141-8955, 11 p.Article

Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutationFISHBEIN, Lanai; KUO, Yien-Ming; GIASSON, Benoit I et al.Brain. 2014, Vol 137, pp 3235-3247, issn 0006-8950, 13 p., 12Article

Anderson-Fabry Disease: A Multiorgan Disease : Anderson Fabry Disease: A Multiorgan Metabolic Disease Susceptible of TreatmentTUTTOLOMONDO, Antonino; PECORARO, Rosaria; SIMONETTA, Irene et al.Current pharmaceutical design (Print). 2013, Vol 19, Num 33, pp 5974-5996, issn 1381-6128, 23 p.Article

Fabry disease in Argentina: an evaluation of patients enrolled in the Fabry RegistryPOLITEI, J. M; CABRERA, G; FERNANDEZ, S et al.International journal of clinical practice (Esher). 2013, Vol 67, Num 1, pp 66-72, issn 1368-5031, 7 p.Article

Inhibition of angiogenesis by β-galactosylceramidase deficiency in globoid cell leukodystrophyBELLERI, Mirella; RONCA, Roberto; BONGARZONE, Ernesto R et al.Brain. 2013, Vol 136, pp 2859-2875, issn 0006-8950, 17 p., 9Article

Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a reviewDEBS, Rabab; FROISSART, Roseline; VANIER, Marie T et al.Journal of inherited metabolic disease. 2013, Vol 36, Num 5, pp 859-868, issn 0141-8955, 10 p.Article

Pioglitazone halts axonal degeneration in a mouse model of X-linked adrenoleukodystrophyMORATO, Laia; GALINO, Jorge; PAMPLONA, Reinald et al.Brain. 2013, Vol 136, pp 2432-2443, issn 0006-8950, 12 p., 8Article

Prevalence of Fabry disease in a predominantly hypertensive population with left ventricular hypertrophyTERRYN, Wim; DESCHOENMAKERE, Gert; POPPE, Bruce et al.International journal of cardiology. 2013, Vol 167, Num 6, pp 2555-2560, issn 0167-5273, 6 p.Article

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

Angiokeratoma: decision-making aid for the diagnosis of Fabry diseaseZAMPETTI, A; ORTEU, C. H; LINDER, D et al.British journal of dermatology (1951). 2012, Vol 166, Num 4, pp 712-720, issn 0007-0963, 9 p.Article

Disruption and therapeutic rescue of autophagy in a human neuronal model of Niemann Pick type C1ORDONEZ, M. Paulina; ROBERTS, Elizabeth A; KIDWELL, Chelsea U et al.Human molecular genetics (Print). 2012, Vol 21, Num 12, pp 2651-2662, issn 0964-6906, 12 p.Article

Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosisCELTIKCI, Başak; IBRAHIM AYDM, Halil; SIVRI, Serap et al.Clinical biochemistry. 2012, Vol 45, Num 7-8, pp 571-574, issn 0009-9120, 4 p.Article

Galactolipid deficiency in the early pathogenesis of neuronal ceroid lipofuscinosis model CIn8mnd: implications to delayed myelination and oligodendrocyte maturationKURONEN, M; HERMANSSON, M; LEHESJOKI, A.-E et al.Neuropathology and applied neurobiology (Print). 2012, Vol 38, Num 5, pp 471-486, issn 0305-1846, 16 p.Article

High-dose supplemental selenite to male Syrian hamsters fed hypercholesterolaemic diets alters Ldlr, Abcg8 and Npc1/1 mRNA expression and lowers plasma cholesterol concentrationsPOIRIER, Johanne; COCKELL, Kevin A; SCOGGAN, Kylie A et al.British journal of nutrition. 2012, Vol 108, Num 2, pp 257-266, issn 0007-1145, 10 p.Article

Immunohistochemical diagnosis of Fabry nephropathy and localisation of globotriaosylceramide deposits in paraffin-embedded kidney tissue sectionsVALBUENA, Carmen; LEITAO, Dina; CARNEIRO, Fátima et al.Virchows Archiv. 2012, Vol 460, Num 2, pp 211-221, issn 0945-6317, 11 p.Article

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosisBRAS, Jose; VERLOES, Alain; SCHNEIDER, Susanne A et al.Human molecular genetics (Print). 2012, Vol 21, Num 12, pp 2646-2650, issn 0964-6906, 5 p.Article

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