Results 21 to 30 of about 496,759 (383)

Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report [PDF]

Journal of Medical Case Reports
Background Pompe disease, a rare autosomal recessive disorder caused by acid alpha-glucosidase deficiency, results in progressive glycogen accumulation and multisystem dysfunction.
Sandra Milena Castellar-Leones, Fernando Ortiz-Corredor, Daniel Manrique-Hernández, Diana Sánchez-Peñarete, Edicson Ruiz-Ospina, Diana Soto-Peña, Cristian Correa-Arrieta   +6 more
doaj   +2 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 ...
Edward S. Cole, Mark Levine, Chandrashekar Ganesa, Gregory A. Grabowski, David P. Witte, Hong Du   +5 more
openaire   +5 more sources

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

New England Journal of Medicine, 2022
Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross ...
Jennifer L. Cohen, P. Chakraborty, K. Fung-Kee-Fung, M. E. Schwab, D. Bali, S. Young, M. Gelb, Hamid Khaledi, A. DiBattista, S. Smallshaw, F. Moretti, Derek Wong, C. Lacroix, D. El Demellawy, Kyle C. Strickland, J. Lougheed, A. Moon‐Grady, B. Lianoglou, P. Harmatz, P. Kishnani, T. Mackenzie   +20 more
semanticscholar   +1 more source

Pancreatic Enzyme Replacement Therapy in Cystic Fibrosis

Nutrients, 2022
While typically considered a pulmonary disease, cystic fibrosis patients develop significant nutritional complications and comorbidities, especially those who are pancreatic insufficient.
Peter N. Freswick, Elizabeth Reid, M. Mascarenhas   +2 more
semanticscholar   +1 more source

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

Genetics in Medicine, 2021
To assess olipudase alfa enzyme replacement therapy for non–central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in children.
G. Diaz, Simon A. Jones, M. Scarpa, K. Mengel, R. Giugliani, N. Guffon, Isabela Batsu, P. Fraser, Jing Li, Qi Zhang, Catherine Ortemann‐Renon   +10 more
semanticscholar   +1 more source

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

Precocious puberty in patients with Pompe disease

Frontiers in Endocrinology, 2023
IntroductionThe life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy. Nevertheless, the potential effect of frequent medical device exposure on pubertal development in these patients is
Meng-Ju Melody Tsai, Meng-Ju Melody Tsai, Mei-Huei Chen, Mei-Huei Chen, Yin-Hsiu Chien, Yin-Hsiu Chien, Yi-Ching Tung   +6 more
doaj   +1 more source

Intravenous Enzyme Replacement Therapy in Mucopolysaccharidoses: Clinical Effectiveness and Limitations

International Journal of Molecular Sciences, 2020
The aim of this review is to summarize the evidence on efficacy, effectiveness and safety of intravenous enzyme replacement therapy (ERT) available for mucopolysaccharidoses (MPSs) I, II, IVA, VI and VII, gained in phase III clinical trials and in ...
R. Parini, F. Deodato
semanticscholar   +1 more source