Long‐term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: Prospective analysis from the French Pompe Registry
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12272
Abstract: Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa,… read more here.
Keywords: replacement therapy; therapy alglucosidase; enzyme replacement; pompe ... See more keywords
Pulmonary manifestations and the effectiveness of enzyme replacement therapy in Fabry Disease with the p. Arg227Ter (p.R227*) mutation
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DOI: 10.1002/mgg3.1915
Abstract: Fabry disease (FD) is caused by a defect in α‐galactosidase A gene (GLA) which leads to a progressive accumulation of neutral shingolipids, mainly globotriaosylceramide and its metabolites in several organs. Pulmonary manifestations of FD mimic… read more here.
Keywords: pulmonary manifestations; disease; replacement therapy; enzyme replacement ... See more keywords
36-Months follow-up assessment after cessation and resuming of enzyme replacement therapy in late onset Pompe disease: data from the Swiss Pompe Registry
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Neurology"
DOI: 10.1007/s00415-018-9065-7
Abstract: IntroductionAlthough not curative, enzyme replacement therapy (ERT) with recombinant human acid alpha-glucosidase enzyme has shown to be effective in the treatment of late-onset Pompe disease (LOPD). For this potentially life-long treatment, little is known on… read more here.
Keywords: replacement therapy; late onset; enzyme replacement; resuming ert ... See more keywords
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: systematic review
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-018-0242-8
Abstract: IntroductionMucopolysaccharidosis VI is a rare disease characterized by the arylsulfatase B enzyme deficiency, which is responsible for different clinical manifestations. The treatment consists of enzyme replacement therapy with intravenous administration of galsulfase.ObjectiveEvaluate the effectiveness of… read more here.
Keywords: mucopolysaccharidosis; replacement therapy; treatment; enzyme replacement ... See more keywords
Mechanisms of Neutralizing Anti-drug Antibody Formation and Clinical Relevance on Therapeutic Efficacy of Enzyme Replacement Therapies in Fabry Disease
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DOI: 10.1007/s40265-021-01621-y
Abstract: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A (AGAL/GLA) gene. The lysosomal accumulation of the substrates globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) results in progressive renal failure,… read more here.
Keywords: enzyme replacement; fabry disease; disease; neutralizing anti ... See more keywords
Anti-BlyS antibody reduces the immune reaction against enzyme and enhances the efficacy of enzyme replacement therapy in Fabry disease model mice.
Sign Up to like & getrecommendations! Published in 2017 at "Clinical immunology"
DOI: 10.1016/j.clim.2017.01.014
Abstract: Formation of antibodies against a therapeutic enzyme is an important complication during enzyme replacement therapy (ERT) for lysosomal storage diseases. Fabry disease (FD) is caused by a deficiency of alpha-galactosidase (GLA), which results in the… read more here.
Keywords: replacement therapy; anti blys; enzyme replacement; antibody ... See more keywords
Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt
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DOI: 10.1016/j.heliyon.2021.e07830
Abstract: Background Undegraded glycosaminoglycans (GAGs) induced by deficiency of enzymes are the primary cause of mucopolyscchardoses. Mucopolysacchardoses (MPS) are a group of rare lysosomal storage diseases (LSD). The quantification of a specific enzymatic activity is needed… read more here.
Keywords: replacement therapy; mps iva; enzyme replacement; mps mps ... See more keywords
Enzyme replacement therapy in mucopolysaccharidosis type II with alternative dosing 1mg/kg idursulfase in every other week infusions
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DOI: 10.1016/j.ymgme.2018.12.180
Abstract: Enzyme replacement therapy for mucopolysaccharidosis II (MPS II) with Idursulfase (ElapraseR) has proven effective in reducing urinary glycosaminoglycan (uGAG) levels, liver and spleen volumes and in increasing walking distance. During phase II/III studies, 0.5mg/kg every… read more here.
Keywords: therapy; enzyme replacement; every week; week ... See more keywords
Risks of long-term port use in enzyme replacement therapy for lysosomal storage disorders
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DOI: 10.1016/j.ymgmr.2018.02.007
Abstract: Totally implantable vascular access devices (TIVADs) are commonly used in conjunction with enzyme replacement therapy (ERT) for lysosomal storage disorders (LSDs). This case series describes potential complications associated with long-term TIVAD use, such as compromise… read more here.
Keywords: replacement therapy; lysosomal storage; term; use ... See more keywords
Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center
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DOI: 10.1016/j.ymgmr.2020.100679
Abstract: Introduction Mucopolysaccharidosis type IV A (MPS IVA) or Morquio A syndrome is an autosomal recessive lysosomal storage disease caused by GALNS gene mutations that lead to a deficiency of the N-acetylgalactosamine-6-sulfate sulfatase enzyme and the… read more here.
Keywords: replacement therapy; morquio syndrome; patients morquio; enzyme replacement ... See more keywords
Protein Delivery by Peptide-Based Stealth Liposomes: A Biomolecular Insight into Enzyme Replacement Therapy.
Sign Up to like & getrecommendations! Published in 2020 at "Molecular pharmaceutics"
DOI: 10.1021/acs.molpharmaceut.0c00615
Abstract: Infantile neural ceroid lipofuscinosis (INCL) is a lysosomal storage disorder characterized by mutations in the CLN1 gene that leads to lack of the lysosomal enzyme palmitoyl-protein thioesterase-1 (PPT1), which causes the progressive death of cortical… read more here.
Keywords: protein; replacement therapy; enzyme replacement; delivery ... See more keywords