Results 241 to 250 of about 133,872 (296)

Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases. [PDF]

Am J Med Genet C Semin Med Genet
Borges B, Canepa E, Chang IJ, Herzeg A, Lianoglou B, Kishnani PS, Harmatz P, MacKenzie TC, Cohen JL.   +8 more
europepmc   +1 more source

New insights in pediatric metabolic medicine: pathogenesis of cholesterol biosynthesis defects and innovative therapies for Pompe disease

, 2007
Rossi, Emiliano
core  

Case Report: A case of surgical and enzyme replacement therapy for type I Gaucher disease complicating femoral shaft pathological fracture. [PDF]

Front Surg
Gao Y, Liu J, Zhang Z, Sheng X, Wang Y, Zhao X, Ma H.   +6 more
europepmc   +1 more source

Case report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age. [PDF]

Mol Genet Metab Rep
Ikari A, Hama A, Okuyama T.
europepmc   +1 more source

Outcome of enzyme replacement therapy for hematological and visceral manifestations in children with acid sphingomyelinase deficiency: a single center experience in upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Shaker EH, Saleh NAM.
europepmc   +1 more source

Targeted nanoliposomes to improve enzyme replacement therapy of Fabry disease. [PDF]

Sci Adv
Tomsen-Melero J, Moltó-Abad M, Merlo-Mas J, Díaz-Riascos ZV, Cristóbal-Lecina E, Soldevila A, Altendorfer-Kroath T, Danino D, Ionita I, Pedersen JS, Snelling L, Clay H, Carreño A, Corchero JL, Pulido D, Casas J, Veciana J, Simó Schwartz Jr, Sala S, Font A, Birngruber T, Royo M, Córdoba A, Ventosa N, Abasolo I, González-Mira E.   +25 more
europepmc   +1 more source

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Pancreatic enzyme replacement therapy

Current Gastroenterology Reports, 2001
Malabsorption due to severe pancreatic exocrine insufficiency is one of the most important late features of chronic pancreatitis. Generally, steatorrhea is more severe and occurs several years prior to malabsorption of other nutrients because synthesis and secretion of lipase are impaired more rapidly, its intraluminal survival is shorter, and the lack
P, Layer, J, Keller, P G, Lankisch
openaire   +2 more sources

Enzyme Replacement Therapy for the Sphingolipidoses

1976
The greatest progress in the field of inheritable disorders during the past decade was made in the understanding and control of lipid storage diseases. Since original demonstrations in 1965 and 1966 of the metabolic defects in Gaucher’s disease (6,7) Niemann-Pick disease (8), Fabry’s disease (9), and metachromatic leukodystrophy (17), specific enzyme ...
R O, Brady, P G, Pentchev, A E, Gal, S R, Hibbert, J M, Quirk, G E, Mook, J W, Kusiak, J F, Tallman, A S, Dekaban   +8 more
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Enzyme-Replacement Therapy in Mucopolysaccharidosis I

New England Journal of Medicine, 2001
Mucopolysaccharidosis I is a lysosomal storage disease caused by a deficiency of the enzyme alpha-L-iduronidase. We evaluated the effect of enzyme-replacement therapy with recombinant human alpha-L-iduronidase in patients with this disorder.We treated 10 patients with mucopolysaccharidosis I (age, 5 to 22 years) with recombinant human alpha-L ...
Emil D. Kakkis, Joseph Muenzer, George E. Tiller, Lewis Waber, John Belmont, Merry Passage, Barbara Izykowski, Jeffrey Phillips, Robin Doroshow, Irv Walot, Richard Hoft, Kian Ti Yu, Susie Okazaki, Dave Lewis, Ralph Lachman, Jerry N. Thompson, Elizabeth F. Neufeld   +16 more
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Fabry disease: enzyme replacement therapy

Journal of the European Academy of Dermatology and Venereology, 2003
ABSTRACTFabry disease is a multisystem disorder associated with wide variability in clinical expression. Fabry disease is an X‐linked lysosomal storage disorder caused by a deficiency of α‐galactosidase A. The enzyme defect leads to the systemic accumulation of glycosphingolipids with α‐galactosyl moieties consisting predominantly of ...
M R, Bongiorno, G, Pistone, M, Aricò
openaire   +2 more sources