Results 91 to 100 of about 5,715,301 (195)

Byron II Presents Quail Ridge

, 1994
Wine "Ms.
Byron II
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Mucopolysaccharidosis in children as seen through the eyes of an ophthalmologist

Mucopolysaccharidosis is a rare, genetically determined metabolic disease. It arises from abnormalities related to the absence or deficiency of lysosomal enzymes needed to break down glycosaminoglycans.
Katarzyna Piasecka, Anna Niwald, Mirosława Grałek   +2 more
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Clinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey. [PDF]

Mol Genet Metab Rep, 2023
Lau H, Harmatz P, Botha J, Audi J, Link B.   +4 more
europepmc   +1 more source

Analysis of the upper airway by the acoustic reflection method in children with mucopolysaccharidosis: Acoustic reflection in mucopolysaccharidosis

, 2011
International audienceBackground Upper airway obstruction is common in children with mucopolysaccharidosis. The acoustic reflection method is a noninvasive technique that can analyse the calibre of the upper airways.
Louis, Bruno, Vialle, Raphael, Bénédicte Heron, Bruno Louis, Leboulanger, Nicolas, Fauroux, Brigitte, Heron, Benedicte, Nicolas Leboulanger, Brigitte Fauroux, Raphaël Vialle   +9 more
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A post hoc analysis of Projected Retained Ability Scores (PRAS) for the longitudinal assessment of cognitive functioning in patients with neuronopathic mucopolysaccharidosis II receiving intrathecal idursulfase-IT. [PDF]

Orphanet J Rare Dis, 2023
Yee KS, Chirila C, Davenport E, Mladsi D, Barnett C, Kronenberger WG.   +5 more
europepmc   +1 more source

Plasmatic and urinary glycosaminoglycans characterization in mucopolysaccharidosis II patient treated with enzyme-replacement therapy with idursulfase

, 2012
Plasmatic and urinary glycosaminoglycans characterization in mucopolysaccharidosis II patient treated with enzyme-replacement therapy with ...
VOLPI, Nicola
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CORRIGENDUM: Interim results of the first stage of a multicenter open multi-cohort study of the safety, pharmacokinetics, pharmacodynamics and efficacy of veranafusp alfa in adult patients with mucopolysaccharidosis type II. [Pharmacy & Pharmacology. 2026;14(1):81-96. DOI: 10.19163/2307-9266-2026-14-1-81-96]

Фармация и фармакология (Пятигорск)
Related to the article: Lukina E.A., Ponomarev R.V., Trishina S.V., Gabitova E.S., Vashakmadze N.D., Karkashadze G.A., Namazova-Baranova L.S. Interim results of the first stage of a multicenter open multi-cohort study of the safety, pharmacokinetics ...
Editorial Edit
doaj   +1 more source

Gene therapy for cross-correction of somatic organs and the CNS in mucopolysaccharidosis II in rodents and non-human primates. [PDF]

Mol Ther Methods Clin Dev, 2023
Chen N, Ehmann DE, Crooker R, Derakhchan K, Fang X, Felice B, Galbreath EJ, Glaus C, Gu H, Huang Y, Li C, Li X, Liu N, Palmieri K, Simic D, Sypek J, Thompson S, Winkelmann CT, Choi VW.   +18 more
europepmc   +1 more source

Musicie być mocni! : drogowskazy Jana Pawła II dla niepełnosprawnych [PDF]

, 2008
Biblioteka Instytutu Jana Pawła II w Wałbrzychu ;
Jan Paweł II (papież ; 1920-2005)
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Intrathecal idursulfase-IT in patients with neuronopathic mucopolysaccharidosis II: Results from a phase 2/3 randomized study. [PDF]

Mol Genet Metab, 2022
Muenzer J, Burton BK, Harmatz P, Gutiérrez-Solana LG, Ruiz-Garcia M, Jones SA, Guffon N, Inbar-Feigenberg M, Bratkovic D, Hale M, Wu Y, Yee KS, Whiteman DAH, Alexanderian D, HGT-HIT-094 Study Group.   +14 more
europepmc   +1 more source