Results 1 to 10 of about 3,547,362 (239)

Safety and efficacy of enzyme replacement therapy in the nephropathy of Fabry disease

Biologics: Targets & Therapy, 2008
Fernando C Fervenza1, Roser Torra2, David G Warnock31Division of Nephrology and Hypertension, Mayo Clinic College of Medicine, Rochester, MN, USA; 2Department of Nephrology, Fundació Puigvert, Barcelona, Spain; 3Division of Nephrology ...
Fernando C Fervenza, Roser Torra, David G Warnock   +2 more
doaj   +1 more source

Enzyme replacement therapy for Fabry disease: some answers but more questions [PDF]

Therapeutics and Clinical Risk Management, 2011
Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of ...
Majid Alfadhel, Sandra Sirrs
doaj   +2 more sources

Hypophosphatasia in childhood: Diagnosis to management

Osteoporosis and Sarcopenia
Hypophosphatasia (HPP) is a rare inherited metabolic bone disorder caused by loss-of-function mutations in the ALPL gene, leading to deficient activity of tissue-nonspecific alkaline phosphatase (TNSALP).
Minji Im, Sung Yoon Cho
doaj   +1 more source

Exocrine Pancreatic Insufficiency in Diabetes Mellitus: Incidence, Pathogenesis, Diagnosis and Treatment

Gastroenterologìa, 2015
The article deals with exocrine pancreatic insufficiency (EPI), which is being detected in a significant number (30–50 %) of patients with diabetes mellitus (DM) type I and II and could potentially affect the compensation of DM.
S.M. Tkach
doaj   +1 more source

EXPERIENCE OF IMPLEMENTING NEW TECHNOLOGY TREATMENT OF CHILDREN WITH MPS IN THE RUSSIAN PEDIATRIC PRACTICE

Педиатрическая фармакология, 2011
The paper is devoted to one of the rare genetically determined diseases — mucopolysaccharidosis. Despite the great achievement of science — the development of the pathogenetic enzyme replacement therapy, many challenges remain.
A.A. Baranov, L.S. Namazova-Baranova, A.K. Gevorkyan, V.M. Krasnov, L.M. Kuzenkova, G.A. Kashkaradze, N.D. Vashakmadze, T.V. Podkletnova   +7 more
doaj   +2 more sources

Enzyme replacement therapy decreases hypergammaglobulinemia in Gaucher's disease

Haematologica, 1998
We report the effects of enzyme replacement therapy in a patient with Gaucher's disease associated with a monoclonal gammopathy. Alglucerase induces a linear decline in immunoglobulin and beta 2-microglobulin levels.
J Deibener, P Kaminsky, C Jacob, B Dousset, M Klein, M Duc   +5 more
doaj  

Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease

Orphanet Journal of Rare Diseases, 2017
Background Mucopolysaccharidosis type I (MPS I) is a debilitating hereditary disease characterized by alpha-L-iduronidase (IDUA) deficiency and consequent inability to degrade glycosaminoglycans.
Yu-Hone Hsu, Ren-Shyan Liu, Win-Li Lin, Yeong-Seng Yuh, Shuan-Pei Lin, Tai-Tong Wong   +5 more
doaj   +1 more source

Enzyme replacement therapy for hypophosphatasia—The current paradigm

Clinical Endocrinology
Abstract Hypophosphatasia (HPP) is a rare, inherited, and systemic disorder characterized by impaired skeletal mineralization and low tissue nonspecific serum alkaline phosphatase (TNSALP) activity. It is caused by either autosomal recessive or dominant‐negative mutations in the gene that encodes TNSALP.
Aaron Schindeler, Karissa Ludwig, Craig F. Munns   +2 more
openaire   +4 more sources

Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future

Drug Design, Development and Therapy, 2017
David AH Whiteman,* Alan Kimura* Research & Development, Shire Human Genetic Therapies, Inc., Lexington, MA, USA *These authors contributed equally to this work Abstract: Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is
Whiteman DAH, Kimura A
doaj  

Widespread correction of brain pathology in feline alpha-mannosidosis by dose escalation of intracisternal AAV vector injection

Molecular Therapy: Methods & Clinical Development
Alpha-mannosidosis is caused by a genetic deficiency of lysosomal alpha-mannosidase, leading to the widespread presence of storage lesions in the brain and other tissues.
Jacqueline E. Hunter, Caitlyn M. Molony, Jessica H. Bagel, Patricia O’Donnell, Charles H. Vite, Sanjeev Chawla, Harish Poptani, John H. Wolfe   +7 more
doaj   +1 more source