Characterization of human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Pichia pastoris as potential enzyme for Mucopolysaccharidosis IVA treatment [PDF]
, 2019 Alméciga-Díaz, Carlos J +7 more
core +1 more source
Oral trehalose improves histological and behavior symptoms of mucopolysaccharidosis type II in iduronate 2-sulfatase deficient mice. [PDF]
Sci RepLee H +8 more
europepmc +1 more source
Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study. [PDF]
Mol Genet Metab Rep, 2021 Tomita K, Okamoto S, Seto T, Hamazaki T.
europepmc +1 more source
Intravenous Idursulfase for the Treatment of Mucopolysaccharidosis Type II: A Systematic Literature Review. [PDF]
Int J Mol SciAl-Hertani W +6 more
europepmc +1 more source
Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting. [PDF]
JIMD Rep, 2021 Fuller M, Ketteridge D.
europepmc +1 more source
Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond. [PDF]
BioDrugsZanetti A, Tomanin R.
europepmc +1 more source
Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants. [PDF]
Hum GenomicsZanetti A, D'Avanzo F, Tomanin R.
europepmc +1 more source
Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report. [PDF]
Mol Genet Metab RepHattori Y +5 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 DisGiugliani R +7 more
europepmc +1 more source
Prioritisation of head, neck, and respiratory outcomes in mucopolysaccharidosis type II: lessons from a rare disease consensus exercise and comparison of parental and clinical priorities. [PDF]
Orphanet J Rare DisDempsey J +8 more
europepmc +1 more source