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Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapyTORRA, R; ALGABA, F; ARS, E et al.Clinical nephrology. 2008, Vol 69, Num 6, pp 445-449, issn 0301-0430, 5 p.Article

Metronomic breathing shows altered parasympathetic baroreflex function in untreated Fabry patients and baroreflex improvement after enzyme replacement therapyHILZ, Max J; KOEHN, Julia; KOLODNY, Edwin H et al.Journal of hypertension. 2011, Vol 29, Num 12, pp 2387-2394, issn 0263-6352, 8 p.Article

Pompe disease (glycogen storage disease type II) : clinical features and enzyme replacement therapyVAN DER BEEK, N. A. M. E; HAGEMANS, M. L. C; VAN DER PLOEG, A. T et al.Acta neurologica belgica. 2006, Vol 106, Num 2, pp 82-86, issn 0300-9009, 5 p.Article

The Role of Immune Tolerance Induction in Restoration of the Efficacy of ERT in Pompe DiseaseLACANA, Emanuela; YAO, Lynne P; PARISER, Anne R et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 30-39, issn 1552-4868, 10 p.Article

Predicting Cross-Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned From 10 Years of Clinical Laboratory Testing ExperienceBALI, Deeksha S; GOLDSTEIN, Jennifer L; BANUGARIA, Suhrad et al.American journal of medical genetics. Part C, Seminars in medical genetics. 2012, Vol 160, Num 1, pp 40-49, issn 1552-4868, 10 p.Article

Mucopolysaccharidosis Type II in Females and Response to Enzyme Replacement TherapyJURECKA, Agnieszka; KRUMINA, Zita; ZUBER, Zbigniew et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 2, pp 450-454, issn 1552-4825, 5 p.Article

Pre-transplant risk factors affecting outcome in Hurler syndromeORCHARD, P. J; MILLA, C; BRAUNLIN, E et al.Bone marrow transplantation (Basingstoke). 2010, Vol 45, Num 7, pp 1239-1246, issn 0268-3369, 8 p.Article

Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis ICLARKE, Lorne A; WRAITH, J. Edmond; COX, Gerald F et al.Pediatrics (Evanston). 2009, Vol 123, Num 1, pp 229-240, issn 0031-4005, 12 p.Article

24-Months results in two adults with Pompe disease on enzyme replacement therapyVIELHABER, Stefan; BREJOVA, Andrea; DEBSKA-VIELHABER, Grazyna et al.Clinical neurology and neurosurgery (Dutch-Flemish ed.). 2011, Vol 113, Num 5, pp 350-357, issn 0303-8467, 8 p.Article

Expression of lysosomal protective protein/cathepsin A in a stably transformed human neuroblastoma cell line during bi-directional differentiation into neuronal and Schwannian cellsITOH, Kohji; SATOH, Yurie; KADOTA, Yoshito et al.Neurochemistry international. 2004, Vol 44, Num 6, pp 447-457, issn 0197-0186, 11 p.Article

The uptake of recombinant glucocerebrosidases by blood monocytes from type 1 Gaucher disease patients is variableBERGER, Juliette; STIRNEMANN, Jérôme; BERGER, Marc G et al.British journal of haematology. 2012, Vol 157, Num 2, pp 274-277, issn 0007-1048, 4 p.Article

Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: What have we learned?EITAN, Yael; ABRAHAMOV, Ayala; PHILLIPS, Mici et al.Prenatal diagnosis. 2010, Vol 30, Num 10, pp 924-927, issn 0197-3851, 4 p.Article

Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapyWINKEL, Léon P. F; KAMPHOVEN, Joep H. J; VAN DEN HOUT, Hannerieke J. M. P et al.Muscle & nerve. 2003, Vol 27, Num 6, pp 743-751, issn 0148-639X, 9 p.Article

Anderson-Fabry Disease in Children : Anderson Fabry Disease: A Multiorgan Metabolic Disease Susceptible of TreatmentSESTITO, Simona; CERAVOLO, Ferdinando; CONCOLINO, Daniela et al.Current pharmaceutical design (Print). 2013, Vol 19, Num 33, pp 6037-6045, issn 1381-6128, 9 p.Article

Pompe Disease: Early Diagnosis and Early Treatment Make a DifferenceCHIEN, Yin-Hsiu; HWU, Wuh-Liang; LEE, Ni-Chung et al.Pediatrics & neonatology (Print). 2013, Vol 54, Num 4, pp 219-227, issn 1875-9572, 9 p.Article

Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4―5 yearsHOLLAK, Carla E. M; BELMATOUG, Nadia; ZIMRAN, Ari et al.British journal of haematology. 2012, Vol 158, Num 4, pp 528-538, issn 0007-1048, 11 p.Article

Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapyAMEER SAIF, Muhammad; BIGGER, Brian W; BROOKES, Karen E et al.Haematologica (Roma). 2012, Vol 97, Num 9, pp 1320-1328, issn 0390-6078, 9 p.Article

Eight-Year Clinical Outcomes of Long-Term Enzyme Replacement Therapy for 884 Children With Gaucher Disease Type 1ANDERSSON, Hans; KAPLAN, Paige; KACENA, Katherine et al.Pediatrics (Evanston). 2008, Vol 122, Num 6, pp 1182-1190, issn 0031-4005, 9 p.Article

Metabolic correction in microglia derived from Sandhoff disease model miceTSUJI, Daisuke; KUROKI, Aya; ISHIBASHI, Yasuhiro et al.Journal of neurochemistry. 2005, Vol 94, Num 6, pp 1631-1638, issn 0022-3042, 8 p.Article

Fabry disease: overall effects of agalsidase alfa treatmentBECK, M; RICCI, R; GAL, A et al.European journal of clinical investigation. 2004, Vol 34, Num 12, pp 838-844, issn 0014-2972, 7 p.Article

Neurological features of Fabry disease: clinical, pathophysiological aspects and therapyBERSANO, A; LANFRANCONI, S; VALCARENGHI, C et al.Acta neurologica scandinavica. 2012, Vol 126, Num 2, pp 77-97, issn 0001-6314, 21 p.Article

Arterial pathology in canine mucopolysaccharidosis-I and response to therapyLYONS, Jeremiah A; DICKSON, Patricia I; WALL, Jonathan S et al.Laboratory investigation. 2011, Vol 91, Num 5, pp 665-674, issn 0023-6837, 10 p.Article

Intracisternal enzyme replacement therapy in lysosomal storage diseases: routes of absorption into brainJOLLY, R. D; MARSHALL, N. R; PERROTT, M. R et al.Neuropathology and applied neurobiology (Print). 2011, Vol 37, Num 4, pp 414-422, issn 0305-1846, 9 p.Article

Downregulation of α-galactosidase A upregulates CD77 : functional impact for Fabry nephropathyTHOMAIDIS, Thomas; RELLE, Manfred; GOLBAS, Mitra et al.Kidney international. 2009, Vol 75, Num 4, pp 399-407, issn 0085-2538, 9 p.Article