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Targeting neurological aspects of mucopolysaccharidosis type II: Enzyme replacement therapy and beyond
A Zanetti, R Tomanin - BioDrugs, 2024 - Springer
Abstract Mucopolysaccharidosis type II (MPS II) is a rare, pediatric, neurometabolic disorder
due to the lack of activity of the lysosomal hydrolase iduronate 2-sulfatase (IDS), normally …
due to the lack of activity of the lysosomal hydrolase iduronate 2-sulfatase (IDS), normally …
[HTML][HTML] Otorhinolaryngological findings in patients from Southwestern Colombia with clinical, enzymatic and molecular diagnosis of mucopolysaccharidosis II, IV-A …
LJM Giraldo, D Arturo-Terranova… - Journal of Inborn Errors of …, 2020 - SciELO Brasil
Mucopolysaccharidosis is characterized by excessive accumulation of glycosaminoglycan
sulfate in organs and tissues. Otorhinolaryngological and upper respiratory tract pathologies …
sulfate in organs and tissues. Otorhinolaryngological and upper respiratory tract pathologies …
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
CP Gomes, MM Marins, FL Motta, SO Kyosen… - Frontiers in …, 2020 - frontiersin.org
Rationale Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem
disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The …
disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The …
Mucopolysaccharidosis Type II in Zambia: A case report highlighting the importance of multi-level collaborations in rare diseases globally
D Tembo, S Nkhoma, KL Nkole, N Kawatu… - Medical Journal of …, 2024 - mjz.co.zm
Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal storage disorder with an
insidious onset and a non-reversible progressive course caused by a mutation in a gene …
insidious onset and a non-reversible progressive course caused by a mutation in a gene …
Hurler holes in Hunter syndrome
R Sharma, V Sharma, T Tiwari, S Goyal - BMJ Case Reports, 2021 - pmc.ncbi.nlm.nih.gov
A 16-year-old male presented to our hospital with complaints of mild mental retardation,
umbilical and bilateral inguinal hernias, distended abdomen, profound bilateral hearing loss …
umbilical and bilateral inguinal hernias, distended abdomen, profound bilateral hearing loss …
Whole exome sequencing identified a de novo variant in the IDS gene in a patient with mild form of the Mucopolysaccharidosis type II
F Asadi, S Kowkabi, MS Ashkuh… - Pathobiology …, 2021 - mjms.modares.ac.ir
ABSTRACT A case-control study was designed to investigate the association between the
risk of colorectal cancer and genetic variation in four single-nucleotide polymorphism …
risk of colorectal cancer and genetic variation in four single-nucleotide polymorphism …
Mucopolysaccharoidoses: Current concepts and perspectives in the 21st century.
DE Greydanus, R Eke… - International Journal of …, 2020 - search.ebscohost.com
Mucopolysaccharidoses (MPSs) are a subclass of lysosomal storage disorders resulting
from a deficiency of one or more of the various enzymes needed for the stepwise …
from a deficiency of one or more of the various enzymes needed for the stepwise …
[PDF][PDF] Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with …
B Miguel-Huguet, A Pardo-Mateos, JM Perez-Garcia… - 2019 - scientiasalut.gencat.cat
Background: A preliminary exploratory study shows solid agreement between the results of
case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) …
case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) …