Fabry's diseaseHQSHOLT, L; WANDALL, A; SOÊRENSEN, S. A et al.Clinical genetics. 1989, Vol 36, Num 5, pp 335-336, issn 0009-9163, 2 p.Conference Paper

MALADIE DE FABRY ET MALADIE DE GAUCHER : CARACTERISATION MOLECULAIRE, CORRELATIONS GENOTYPE/PHENOTYPE ET PERSPECTIVES THERAPEUTIQUES = FABRY DISEASE AND GAUCHER DISEASE : MOLECULAR CHARACTERIZATION, GENOTYPE/PHENOTYPE CORRELATIONS, AND PROSPECT OF THERAPYGermain, Dominique; Poenaru, Livia.1999, 259 p.Thesis

Foamy transformed Gaucher cells = Umwandlung von Gaucher-Zellen zu SchaumzellenELLEDER, M.Zentralblatt für Pathologie. 1992, Vol 138, Num 1, pp 47-50, issn 0863-4106Article

β-glucosidases: bases moléculaires de la maladie de Gaucher = B-glucosidases. Molecular bases of Gaucher diseaseMARET, A; SALVAYRE, R; NEGRE, A et al.Transactions of the Zoological Society of London. 1985, Vol 33, Num 6, pp 693-713, issn 0084-5620Article

New Spielmeyer-Vogt variant with granular inclusions and early brain atrophyPHILIPPART, M; CHUGANI, H. T; BATEMAN, J. B et al.American journal of medical genetics. 1995, Vol 57, Num 2, pp 160-164, issn 0148-7299Conference Paper

Gaucher's disease: advances and challengesMARTIN, B. M; SIDRANSKY, E; GINNS, E. I et al.Advances in pediatrics. 1989, Vol 36, pp 277-306, issn 0065-3101, 30 p.Article

Sodium taurocholate effect on β-glucosidase activity: a new approach for identification of Gaucher disease using the synthetic substrate and leucocytesMAGALHAES, J; SA MIRANDA, M. C; PINTO, R et al.Clinica chimica acta. 1984, Vol 141, Num 2-3, pp 111-118, issn 0009-8981Article

Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)ØSTERGAARD, J. R; RASMUSSEN, T. B; MØLGAARD, H et al.Neurology. 2011, Vol 76, Num 14, pp 1245-1251, issn 0028-3878, 7 p.Article

Enfermedades hereditarias lisosomales en México. III, Diagnóstico de laboratorio para esfingolipidosisELENA ZETINA, M; GONZALEZ-NORIEGA, A.Revista de investigacion clinica. 1991, Vol 43, Num 1, pp 52-60, issn 0034-8376Article

Gaucher's disease affecting the mandibleHALL, M. B; BROWN, R. W; BAUGHMAN, R. A et al.Journal of oral and maxillofacial surgery. 1985, Vol 43, Num 3, pp 210-213, issn 0278-2391Article

Molecular weight characterization of β-glucocerebrosidase in mononuclear white blood cells in Gaucher's diseasePIRRUCCELLO, S; BARRANGER, J. A; BARTON, N. W et al.Biochemical medicine. 1984, Vol 31, Num 1, pp 73-79, issn 0006-2944Article

The mutation mechanism causing juvenile-onset Tay-Sachs disease among LebaneseHECHTMAN, P; BOULAY, B; BAYLERAN, J et al.Clinical genetics. 1989, Vol 35, Num 5, pp 364-375, issn 0009-9163, 12 p.Article

Maladie de Fabry = Fabry disease. An updatePORNEUF, M; SOTTO, A; PERRIN, P et al.La Semaine des hôpitaux de Paris. 1993, Vol 69, Num 21, pp 634-638, issn 0037-1777Article

Development of serum hexosaminidase activity in infantsSHATTUCK, K. E; RICHARDSON, C. J; RASSIN, D. K et al.Biology of the neonate. 1986, Vol 49, Num 3, pp 126-131, issn 0006-3126Article

Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I: Statistical methodsCANTOR, R. M; LIM, J. S. T; ROY, C et al.American journal of human genetics. 1985, Vol 37, Num 5, pp 912-921, issn 0002-9297Article

Glycosphingolipid degradation and animal models of GM2-gangliosidosesKOLTER, T; SANDHOFF, K.Journal of inherited metabolic disease. 1998, Vol 21, Num 5, pp 548-563, issn 0141-8955Conference Paper

Les sphingolipidoses. Actualisation des connaissancesROUSSON, R; BONNET, J; RODRIGUEZ, C et al.La Médecine infantile (Paris). 1990, Vol 97, Num 2, pp 95-100, issn 0025-6773Article

Bone marrow transplantation in Gaucher's disease : effect of mixed chimeric stateCHAN, K. W; WONG, L. T. K; APPLEGARTH, D et al.Bone marrow transplantation (Basingstoke). 1994, Vol 14, Num 2, pp 327-330, issn 0268-3369Article

Accumulation of lysosphingolipids in tissues from patients with GM1 and GM2 gangliosidosesKOBAYASHI, T; GOTO, I; OKADA, S et al.Journal of neurochemistry. 1992, Vol 59, Num 4, pp 1452-1458, issn 0022-3042Article

Identification des homo- et des hétérozygotes dans les gangliosidoses GM2ARONOVICH, E. L; KRASNOPOL'SKAYA, K. D; KIKHARENKO, V. I et al.Genetika. 1986, Vol 22, Num 8, pp 2179-2185, issn 0016-6758Article

Hexosaminidase A activity in skin fibroblasts from various types of GM₂ gangliosidosis using a fluorogenic sulphated substrateINUI, K; YUTAKA, T; OKADA, S et al.Journal of inherited metabolic disease. 1985, Vol 8, Num 3, pp 149-150, issn 0141-8955Article

Apport de la microscopie électronique de cultures de fibroblastes au diagnostic de maladies métaboliques héréditaires = Electron microscopic contribution of fibroblast culture for diagnosis of metabolic diseaseJAFFRAY, J. Y; CHARBONNE, F; ROUSSEAU, P et al.Transactions of the Zoological Society of London. 1986, Vol 34, Num 2, pp 91-98, issn 0084-5620Article

A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onsetPINEDA-TRUJILLO, N; CORNEJO, W; MOLE, S. E et al.Neurology. 2005, Vol 64, Num 4, pp 740-742, issn 0028-3878, 3 p.Article

A pseudodeficiency allele common inn non-jewish Tay-Sachs carriers : implications for carrier screeningTRIGGS-RAINE, B. L; MULES, E. H; GREENBERG, C. R et al.American journal of human genetics. 1992, Vol 51, Num 4, pp 793-801, issn 0002-9297Article

Complex alleles of the acid β-glucosidase gene in Gaucher diseaseLATHAM, T; GRABOWSKI, G. A; THEOPHILUS, B. D. M et al.American journal of human genetics. 1990, Vol 47, Num 1, pp 79-86, issn 0002-9297, 8 p.Article