Enzyme Replacement Therapy in the Treatment of Fabry Disease
罕见病研究, 2023 Fabry disease is an X-linked inherited lysosomal storage disease caused by the mutation of GLA gene that encodes α-galactosidase A (α-Gal A). GLA gene mutation causes the decline or deficiency in the activity of α-Gal A, leading to the accumulation of ...
YU Che, WANG Rong
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Drug delivery in overcoming the blood-brain barrier: role of nasal mucosal grafting [PDF]
, 2017 The blood–brain barrier (BBB) plays a fundamental role in protecting and maintaining the homeostasis of the brain. For this reason, drug delivery to the brain is much more difficult than that to other compartments of the body. In order to bypass or cross
Carafa, Maria +5 more
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Enzyme Replacement Therapy and Fabry Nephropathy [PDF]
Clinical Journal of the American Society of Nephrology, 2010 Involvement of the kidneys in Fabry disease ("nephropathy") occurs in male and female individuals. The majority of patients with progressive nephropathy will have significant proteinuria and develop progressive loss of kidney function, leading to ESRD.
David G, Warnock +3 more
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Enzyme Replacement Therapy for Murine Hypophosphatasia [PDF]
Journal of Bone and Mineral Research, 2008 Abstract Introduction: Hypophosphatasia (HPP) is the inborn error of metabolism that features rickets or osteomalacia caused by loss-of-function mutation(s) within the gene that encodes the tissue-nonspecific isozyme of alkaline phosphatase (TNALP).
José Luis, Millán +11 more
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Pilot study of the safety and effect of adalimumab on pain, physical function, and musculoskeletal disease in mucopolysaccharidosis types I and II. [PDF]
, 2017 Mucopolysaccharidosis I and II are lysosomal storage disorders that, despite treatment with hematopoietic cell transplantation (HCT) and/or enzyme replacement therapy (ERT), continue to cause significant skeletal abnormalities leading to pain, stiffness,
Dickson, Patricia +6 more
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Enzyme replacement therapy with taliglucerase alfa: 36-month safety and efficacy results in adult patients with Gaucher disease previously treated with imiglucerase. [PDF]
, 2016 Taliglucerase alfa is the first available plant cell-expressed human recombinant therapeutic protein. It is indicated for treatment of patients with type 1 Gaucher disease (GD) in adult and pediatric patients in several countries.
Amato, Dominick J +9 more
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Pancreatic exocrine insufficiency after bariatric surgery [PDF]
, 2017 Morbid obesity is a lifelong disease, and all patients require complementary follow-up including nutritional surveillance by a multidisciplinary team after bariatric procedures.
Arnelo, Urban +7 more
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Case Reports, 2019 Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumulation mainly in cardiac and skeletal muscles.
Thomas Torres-Cuenca +2 more
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Arterial pathology in canine mucopolysaccharidosis-I and response to therapy. [PDF]
, 2011 Mucopolysaccharidosis-I (MPS-I) is an inherited deficiency of α-L-iduronidase (IdU) that causes lysosomal accumulation of glycosaminoglycans (GAG) in a variety of parenchymal cell types and connective tissues.
Dickson, Patricia I +6 more
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Modifying enzyme replacement therapy – A perspective
Journal of Cellular and Molecular Medicine, 2022 AbstractSeveral diseases are caused by the lack of functional proteins, including lysosomal storage diseases or haemophilia A and B. Patients suffering from one of these diseases are treated via enzyme replacement therapies to restore the missing protein.
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