Results 1 to 10 of about 249,219 (350)

Enzyme replacement therapy: efficacy and limitations [PDF]

Italian Journal of Pediatrics, 2018
Enzyme replacement therapy (ERT) is available for mucopolysaccharidosis (MPS) I, MPS II, MPS VI, and MPS IVA. The efficacy of ERT has been evaluated in clinical trials and in many post-marketing studies with a long-term follow-up for MPS I, MPS II, and ...
Daniela Concolino, Federica Deodato, Rossella Parini   +2 more
doaj   +4 more sources

Enzyme Replacement Therapy for Fabry Disease

Journal of Inborn Errors of Metabolism and Screening, 2016
Fabry disease is a rare X-linked disease caused by the deficiency of α-galactosidase that leads to the accumulation of abnormal glycolipid. Untreated patients develop potentially lethal complications by age 30 to 50 years.
Maria Dolores Sanchez-Niño PhD, Alberto Ortiz MD, PhD   +1 more
doaj   +5 more sources

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors. [PDF]

PLoS ONE, 2017
Despite enzyme replacement therapy, disease progression is observed in patients with Fabry disease. Identification of factors that predict disease progression is needed to refine guidelines on initiation and cessation of enzyme replacement therapy.
Maarten Arends, Marieke Biegstraaten, Derralynn A Hughes, Atul Mehta, Perry M Elliott, Daniel Oder, Oliver T Watkinson, Frédéric M Vaz, André B P van Kuilenburg, Christoph Wanner, Carla E M Hollak   +10 more
doaj   +3 more sources

The Role of Mannosylated Enzyme and the Mannose Receptor in Enzyme Replacement Therapy [PDF]

The American Journal of Human Genetics, 2005
Lysosomal acid lipase (LAL) is the critical enzyme for the hydrolysis of triglycerides (TGs) and cholesteryl esters (CEs) in lysosomes. LAL defects cause Wolman disease (WD) and CE storage disease (CESD). An LAL null (lal-/-) mouse model closely mimics human WD/CESD, with hepatocellular, Kupffer cell and other macrophage, and adrenal cortical storage ...
Hong Du, M.S. Levine, Chandrashekar Ganesa, David P. Witte, Edward S. Cole, Gregory A. Grabowski   +5 more
openalex   +5 more sources

Enzyme replacement therapies: what is the best option? [PDF]

BioImpacts, 2018
Despite many beneficial outcomes of the conventional enzyme replacement therapy (ERT), several limitations such as the high-cost of the treatment and various inadvertent side effects including the occurrence of an immunological response against the infused enzyme and development of resistance to enzymes persist.
Azam Safary, Mostafa Akbarzadeh Khiavi, Rahimeh Mousavi, Jaleh Barar, Mohammad A Rafi   +4 more
openaire   +7 more sources

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   +3 more sources

A Case of Hypophosphatasia Started Enzyme Replacement Therapy Since Babyhood Stage [PDF]

Children
Background: Hypophosphatasia (HPP) is an inherited disease caused by low activity of tissue-nonspecific alkaline phosphatase. Dental characteristics include premature loss of primary teeth, enlarged pulp chambers, and enamel hypoplasia.
Tatsuya Akitomo, Noriko Niizato, Ami Kaneki, Masashi Ogawa, Taku Nishimura, Mariko Kametani, Momoko Usuda, Yuko Iwamoto, Chieko Mitsuhata, Ryota Nomura   +9 more
doaj   +2 more sources

Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine

Pharmaceutics, 2023
This review presents current updates of pancreatic enzyme replacement therapy in children with cystic fibrosis based on literature published in the last decade and some special considerations regarding pancreatic enzyme replacement therapy in the era of ...
Mirela-Elena Ritivoiu, Cristina Manuela Drăgoi, Dumitru Matei, Iustina Violeta Stan, Alina Crenguţa Nicolae, Mihai Craiu, Ion-Bogdan Dumitrescu, Alina Angelica Ciolpan   +7 more
doaj   +1 more source

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report

Journal of Medical Case Reports, 2022
Background Mucopolysaccharidosis VI, or Maroteaux–Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans.
Isadora Andrade, River Ribeiro, Zumira A. Carneiro, Roberto Giugliani, Catarina Pereira, Claudia Cozma, Daniel Grinberg, Lluïsa Vilageliu, Charles M. Lourenco   +8 more
doaj   +1 more source

Case Report: Mucopolysaccharidosis Type I Treatment With α-L-Iduronidase Replacement Therapy

Frontiers in Pediatrics, 2022
Mucopolysaccharidosis is a rare disease and can be divided into seven different subtypes, according to the affected enzyme. Mucopolysaccharidosis type I, the first subtype discovered and reported, mainly affects the in vivo storage of degraded sugar. The
Ying Li, Deyun Liu, Yue Yu
doaj   +1 more source