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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
- M. Scarpa, Zsuzsanna Almássy, +23 authors J. Wraith
- Orphanet journal of rare diseases
- 7 November 2011
Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of… Expand
Therapeutic goals in the treatment of Gaucher disease.
Gaucher disease, the most common lysosomal storage disorder, is a heterogeneous multisystem condition. Patients with non-neuronopathic (type 1) Gaucher disease may suffer from hepatomegaly,… Expand
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response.
Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, leads to prominent glucosylceramide accumulation in lysosomes of tissue macrophages (Gaucher cells). Here we show… Expand
Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry
Fabry disease is an X-linked lysosomal disease caused by deficiency of α-galactosidase A. Signs and symptoms of Fabry disease occurring during childhood and adolescence were characterized in 352… Expand
Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses
- E. Piotrowska, J. Jakóbkiewicz-Banecka, +4 authors G. Węgrzyn
- Biology, Medicine
- European Journal of Human Genetics
- 1 July 2006
Mucopolysaccharidoses (MPS) are inherited, severe, progressive, metabolic disorders caused by deficiencies in different enzymes involved in degradation of glycosaminoglycans (GAGs). Although enzyme… Expand
Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.
OBJECTIVE To evaluate the safety and explore the efficacy of enzyme replacement therapy with agalsidase beta (recombinant human alpha-galactosidase A; Fabrazyme [Genzyme Corporation, Cambridge, MA])… Expand
Mucopolysaccharidosis type II (Hunter syndrome): mutation "hot spots" in the iduronate-2-sulfatase gene.
- M. Rathmann, S. Bunge, M. Beck, H. Kresse, A. Tylki-Szymańska, A. Gal
- Biology, Medicine
- American journal of human genetics
- 1 December 1996
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-chromosomal storage disorder due to deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). We have identified IDS mutations in… Expand
Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document
- M. Biegstraaten, R. Arngrímsson, +31 authors C. Hollak
- Orphanet Journal of Rare Diseases
- 27 March 2015
IntroductionFabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease… Expand
Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.
- K. Lukong, M. A. Elsliger, +9 authors A. Pshezhetsky
- Biology, Medicine
- Human molecular genetics
- 12 April 2000
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase, which catalyzes the hydrolysis of sialoglycoconjugates. The disease is associated with… Expand
Management of neuronopathic Gaucher disease: A European consensus
- A. Vellodi, B. Bembi, +5 authors A. Tylki-Szymańska
- Journal of Inherited Metabolic Disease
- 1 June 2001
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