Results 131 to 140 of about 2,842 (215)

Mapping Lysosomal Storage Disorders with Neurological Features by Cellular Pathways: Towards Precision Medicine. [PDF]

Curr Issues Mol Biol
Makridou A, Sintou E, Chatzianagnosti S, Gargani S, Manthou ME, Dermitzakis I, Theotokis P.   +6 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

Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice. [PDF]

Sci Rep
Lee H, Han JH, Jeong RG, Kang YJ, Choi BH, Kim SR, Cheon CK, Hur J, Lee SY.   +8 more
europepmc   +1 more source

MUSCULOSKELETAL ALTERATIONS OF ORTHOPEDIC INTEREST IN MUCOPOLYSACCHARIDOSES. [PDF]

Acta Ortop Bras
Matos MA, Lopes PS.
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

Sulfation pathways in the maintenance of functional beta-cell mass and implications for diabetes. [PDF]

Essays Biochem
Mueller JW, Thomas P, Dalgaard LT, da Silva Xavier G.   +3 more
europepmc   +1 more source

RNA-based therapeutic interventions for the management of Anderson-Fabry disease. [PDF]

Mol Ther Nucleic Acids
Cagnin S.
europepmc   +1 more source

Single-cell RNA sequencing reveals important role of monocytes and macrophages during mucopolysaccharidosis treatment. [PDF]

Sci Rep
Zhu G, Xie Y, Li L, Li R, Sun Y, Zhou T, Cun Y.   +6 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

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