Results 121 to 130 of about 5,240 (183)

Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review. [PDF]

BMC Pediatr
Liu RY, Dai YL, Zou CC.
europepmc   +1 more source

Advances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches. [PDF]

Clin Proteomics
Ramarajan MG, Garapati K, Ghose V, Pandey A.   +3 more
europepmc   +1 more source

CSF GAG non-reducing ends in MPS IH after peripheral and brain-penetrating therapies: A model comparing IV non-targeted ERT and HCT. [PDF]

Mol Ther Adv
Lund TC, Wagner JE, Long S, Gupta AO, Orchard PJ, Braunlin E, Whitley CB, Eisengart JB.   +7 more
europepmc   +1 more source

Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III. [PDF]

Mol Genet Metab Rep
Seo JH, Sou W, Chinen Y, Okuyama T.
europepmc   +1 more source

RNA activation as a precision dosing modality: MTL-CEBPA for controlled enzyme elevation in MPS I-H. [PDF]

Front Med (Lausanne)
Reebye V, Skourti-Stathaki K, Vanezis K, Song M, Przybilla MJ, Purdie K, Tesone AJ, Pizza G, Jarvis S, Raulf N, Andrikakou P, Vasara J, Setten R, Nicholls J, Hegre SA, Sætrom P, Habib R, Huang KW, Farzaneh F, Li H, Rossi JJ, Tomatsu S, Khan S, Furness L, Wynn R, Whitley CB, Jones SA, Habib NA.   +27 more
europepmc   +1 more source

Allogeneic hematopoietic stem cell transplantation modulates neurodevelopmental trajectories in mucopolysaccharidosis: a longitudinal study of subtype-specific outcomes and age-dependent efficacy. [PDF]

Orphanet J Rare Dis
Xu Y, Fang X, Luo C, Zhou C, Wang J, Mi Y, Xie J, Shen M.   +7 more
europepmc   +1 more source

Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II. [PDF]

PLoS One
Shamoun AJ, Reis G, Ashley M, Labilloy A, Ferreira LF.   +4 more
europepmc   +1 more source

Biomarkers in patients with mucopolysaccharidosis type II and IV

Biomarkers in patients with mucopolysaccharidosis type II and IV
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