Symposium on Lysosomal Storage DisordersGRABOWSKI, Gregory A.The Journal of pediatrics. 2004, Vol 144, Num 5, issn 0022-3476, SUPConference Proceedings

Maladies lysosomales = Lysosomal disordersJournal de la Société de biologie. 2002, Vol 196, Num 2, issn 1295-0661, 65 p.Serial Issue

A block of autophagy in lysosomal storage disordersSETTEMBRE, Carmine; FRALDI, Alessandro; JAHREISS, Luca et al.Human molecular genetics (Print). 2008, Vol 17, Num 1, pp 119-129, issn 0964-6906, 11 p.Article

Diagnostic des maladies lysosomiales = Diagnosis of lysosomal diseasesCAILLAUD, C.La Revue de médecine interne (Paris). 2007, Vol 28, issn 0248-8663, S288-S289, SUP4Conference Paper

Diagnostic biologique des maladies lysosomales = Biological diagnosis of lysosomal diseasesBEKRI, S.Annales de biologie clinique (Paris). 2006, Vol 64, Num 6, pp 592-600, issn 0003-3898, 9 p.Conference Paper

Screening patients referred to a metabolic clinic for lysosomal storage disordersFULLER, Maria; TUCKER, Justin N; LANG, Debbie L et al.Journal of medical genetics. 2011, Vol 48, Num 6, pp 422-425, issn 0022-2593, 4 p.Article

International Symposium on Lysosomal Storage DiseasesActa paediatrica. Supplement. 2007, Vol 96, Num 455, pp 93-112, issn 0803-5326, 19 p.Conference Paper

New Developments in Biomarkers for Lysosomal Storage DisordersAERTS, Johannes M.Clinical therapeutics. 2008, Vol 30, issn 0149-2918, S92-S93, SUPCConference Paper

Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts?HAWKINS-SALSBURY, Jacqueline A; REDDY, Adarsh S; SANDS, Mark S et al.Human molecular genetics (Print). 2011, Vol 20, Num 1, issn 0964-6906, R54-R60, NSArticle

Thérapie génique des maladies lysosomales = Gene therapy of lysosome disordersMOULLIER, P; SALVETTI, A; BOHL, D et al.Archives de pédiatrie (Paris). 1996, Vol 3, pp 65s-68s, issn 0929-693X, SUP1Conference Paper

New therapeutic options for lysosomal storage disorders : enzyme replacement, small molecules and gene therapyBECK, Michael.Human genetics. 2007, Vol 121, Num 1, pp 1-22, issn 0340-6717, 22 p.Article

Enzyme engineering and its application in lysosomal storage diseaseMUMTAZ, S; BACHHAWAT, B. K.Pure and applied chemistry. 1992, Vol 64, Num 8, pp 1055-1060, issn 0033-4545Conference Paper

Newborn Bloodspot Screening for Lysosomal Storage DisordersHUI ZHOU; FERNHOFF, Paul; VOGT, Robert F et al.The Journal of pediatrics. 2011, Vol 159, Num 1, pp 7-13, issn 0022-3476, 7 p.Article

Liver biopsies in patients with lysosomal storage disease : Experience with effective sedationGREWAL, R. P; YU, K. T; BARTON, N. W et al.Indian journal of pediatrics. 1997, Vol 64, Num 6, pp 887-891, issn 0019-5456Article

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperonesHUI WEI; KIM, Sung-Jo; ZHONGJIAN ZHANG et al.Human molecular genetics (Print). 2008, Vol 17, Num 4, pp 469-477, issn 0964-6906, 9 p.Article

Lysosomal storage disorders: The need for better pediatric recognition and comprehensive careWILCOX, William R.The Journal of pediatrics. 2004, Vol 144, Num 5, pp S3-S14, issn 0022-3476, SUPConference Paper

Thérapie génique des maladies lysosomales = Gene therapy for lyososomal storage diseasesPOENARU, L.MS. Médecine sciences. 1996, Vol 12, Num 1, pp 35-46, issn 0767-0974Article

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

GM130 gain-of-function induces cell pathology in a model of lysosomal storage diseaseROY, Elise; BRUYERE, Julie; FLAMANT, Patricia et al.Human molecular genetics (Print). 2012, Vol 21, Num 7, pp 1481-1495, issn 0964-6906, 15 p.Article

Maladies de surcharge lysosomale : classification fonctionnelle et principes thérapeutiques = Lysosomal storage diseases : functional classification and treatment principlesMAIRE, Irène.La Presse médicale (1983). 2007, Vol 36, issn 0755-4982, 1S88-1S95, HS1Conference Paper

Immunochemistry of lysosomal storage disordersPARKINSON-LAWRENCE, Emma; FULLER, Maria; HOPWOOD, John J et al.Clinical chemistry (Baltimore, Md.). 2006, Vol 52, Num 9, pp 1660-1668, issn 0009-9147, 9 p.Article

Prevalence of lysosomal storage diseases in PortugalPINTO, Rui; CASEIRO, Carla; RIBEIRO, Isaura et al.European journal of human genetics. 2004, Vol 12, Num 2, pp 87-92, issn 1018-4813, 6 p.Article

A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite populationRUPAR, C. Anthony; MATSELL, Douglas; SURRY, Susan et al.Journal of medical genetics. 2001, Vol 38, Num 9, pp 615-616, issn 0022-2593Article

Musculoskeletal manifestations of lysosomal storage disordersALDENHOVEN, M; SAKKERS, R. J. B; BOELENS, J et al.Annals of the rheumatic diseases. 2009, Vol 68, Num 11, pp 1659-1665, issn 0003-4967, 7 p.Article

The Role of Current Biomarkers in the Management of Lysosomal Storage DisordersMAIRE, Irène; GUFFON, Nathalie; PIRAUD, Monique et al.Clinical therapeutics. 2008, Vol 30, issn 0149-2918, S90-S91, SUPCConference Paper