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

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

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

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

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

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

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

Gene Therapy Approaches for Lysosomal Storage Disease: Next-Generation TreatmentBYRNE, Barry J; FALK, Darin J; CLEMENT, Nathalie et al.Human gene therapy. 2012, Vol 23, Num 8, pp 808-815, issn 1043-0342, 8 p.Article

Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders : a multidisciplinary perspectiveMARTIN, Holly R; POE, Michele D; REINHARTSEN, Debra et al.Acta paediatrica (Oslo). 2008, Vol 97, pp 69-75, issn 0803-5253, 7 p., SUP457Conference Paper

Emerging therapies for neurodegenerative lysosomal storage disorders - from concept to realityHEMSLEY, Kim M; HOPWOOD, John J.Journal of inherited metabolic disease. 2011, Vol 34, Num 5, pp 1003-1012, issn 0141-8955, 10 p.Article

Methods for assessing neurodevelopment in lysosomal storage diseases and related disorders: a multidisciplinary perspectiveMARTIN, Holly R; POE, Michele D; REINHARTSEN, Debra et al.Acta paediatrica. Supplement. 2008, Vol 97, Num 457, pp 69-75, issn 0803-5326, 7 p.Article

Treatment of lysosomal storage disorders: successes and challengesHOLLAK, Carla E. M; WIJBURG, Frits A.Journal of inherited metabolic disease. 2014, Vol 37, Num 4, pp 587-598, issn 0141-8955, 12 p.Conference Paper

The cellular pathology of lysosomal diseasesCOX, Timothy M; BEGONA CACHON-GONZALEZ, M.Journal of pathology (Print). 2012, Vol 226, Num 2, pp 241-254, issn 0022-3417, 14 p.Article

Newborn Screening of Lysosomal Storage DisordersMARSDEN, Deborah; LEVY, Harvey.Clinical chemistry (Baltimore, Md.). 2010, Vol 56, Num 7, pp 1071-1079, issn 0009-9147, 9 p.Article

Le système lysosomial dans la protéolyse: panorama des maladies lysosomiales = Lysosomal proteolysis; overview of lysosomal diseasesMAIRE, Irène.Bulletin de l'Académie nationale de médecine. 2012, Vol 196, Num 8, pp 1561-1574, issn 0001-4079, 14 p.Article

Pathogenic cascades in lysosomal disease-Why so complex?WALKLEY, S. U.Journal of inherited metabolic disease. 2009, Vol 32, Num 2, pp 181-189, issn 0141-8955, 9 p.Conference Paper

Equilibrative Nucleoside Transporter 3 Deficiency Perturbs Lysosome Function and Macrophage HomeostasisHSU, Chia-Lin; WEIYU LIN; MIN XU et al.Science (Washington, D.C.). 2012, Vol 335, Num 6064, pp 89-92, issn 0036-8075, 4 p.Article

Impaired parkin-mediated mitochondrial targeting to autophagosomes differentially contributes to tissue pathology in lysosomal storage diseasesDE PABLO-LATORRE, Raquel; SAIDE, Assunta; POLISHHUCK, Elena V et al.Human molecular genetics (Print). 2012, Vol 21, Num 8, pp 1770-1781, issn 0964-6906, 12 p.Article

Simplified Newborn Screening Protocol for Lysosomal Storage DisordersMETZ, Thomas F; MECHTLER, Thomas P; KASPER, David C et al.Clinical chemistry (Baltimore, Md.). 2011, Vol 57, Num 9, pp 1286-1294, issn 0009-9147, 9 p.Article

A potentially dynamic lysosomal role for the endogenous TRPML proteinsZEEVI, David A; FRUMKIN, Ayala; OFFEN-GLASNER, Vered et al.Journal of pathology (Print). 2009, Vol 219, Num 2, pp 153-162, issn 0022-3417, 10 p.Article

Newborn Screening of Lysosomal Storage Disorders in AustriaBODAMER, Olaf A; DAJNOKI, Angela; FEKETE, György et al.Clinical therapeutics. 2008, Vol 30, issn 0149-2918, p. S78, SUPCConference Paper

Lysosomal diseases: diagnostic updateWINCHESTER, Bryan.Journal of inherited metabolic disease. 2014, Vol 37, Num 4, pp 599-608, issn 0141-8955, 10 p.Conference Paper