Results 131 to 140 of about 2,839 (212)

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of <i>Drosophila melanogaster</i> During Aging. [PDF]

Cells
Markaki SP, Kiose NM, Charitopoulou ZA, Kougioumtzoglou S, Velentzas AD, Stravopodis DJ.   +5 more
europepmc   +1 more source

Two-year follow-up after drug desensitization in mucopolysaccharidosis. [PDF]

Orphanet J Rare Dis
Spataro F, Ria R, Chaoul N, Solimando AG, Desantis V, Vacca A, Di Bona D, Girolamo AD, Macchia L.   +8 more
europepmc   +1 more source

Mutational and functional analysis of iduronate-2-sulfatase deficiency in patients with Hunter syndrome. [PDF]

, 1996
Li, Peining
core   +1 more source

<i>In vivo</i> CRISPR/Cas9-mediated gene integration corrects mucopolysaccharidosis type II in mice. [PDF]

Genes Dis
Yu H, Qin Q, Cui S, Wa Y, Dong K, Ji W, Jia X, Fu S, Wu J, Sun W.   +9 more
europepmc   +1 more source

Genotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study. [PDF]

Diagnostics (Basel)
Yazıcı H, Kara E, Bulut FD, Çelik MY, Köşeci B, Erdem F, Burgaç E, Yanbolu AY, Kaplan İ, Durmaz A, Aykut A, Canda E, Kor D, Uçar SK, Sözmen E, Çoker M, Mungan HNÖ.   +16 more
europepmc   +1 more source

Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know. [PDF]

, 2018
Francesca, Bertola, Mirella, Filocamo, Morrone, Amelia, Rosella, Tomanin   +3 more
core   +1 more source

Heparan sulfate in cerebrospinal fluid as a biomarker to assess disease severity and for treatment monitoring in patients with Mucopolysaccharidosis Type II: a position statement. [PDF]

Orphanet J Rare Dis
Giugliani R, de Siqueira ACM, Santos ES, Leão EKEA, Carvalho GDS, Santos MLSF, Raskin S, Martins AM.   +7 more
europepmc   +1 more source

Editorial: Endo- and transcytotic pathways at the brain barriers. [PDF]

Front Drug Deliv
Erickson MA, Nielsen MS.
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

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