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5 articles related to "Mps Ii"

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Articles

Case Report

Published on 21 May 2020

Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter Syndrome

in Immunological Tolerance and Regulation

Daniel C. Julien
Kara Woolgar
Laura Pollard
Holly Miller
Ankit Desai
Kristin Lindstrom
Priya S. Kishnani

Frontiers in Immunology

doi 10.3389/fimmu.2020.01000

6,047 views
13 citations

Original Research

Published on 05 Nov 2021

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing

in Molecular Diagnostics and Therapeutics

Alice Brinckmann Oliveira Netto
Ana Carolina Brusius-Facchin
Sandra Leistner-Segal
Francyne Kubaski
Juliana Josahkian
Roberto Giugliani

Frontiers in Molecular Biosciences

doi 10.3389/fmolb.2021.789350

4,502 views
3 citations

Original Research

Published on 13 Jan 2023

Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China

in Genetics of Common and Rare Diseases

Zhenjie Zhang
Mingsheng Ma
Weimin Zhang
Yu Zhou
Fengxia Yao
Lisi Zhu
Min Wei
Zhengqing Qiu

Frontiers in Genetics

doi 10.3389/fgene.2023.1103620

4,134 views
9 citations

Original Research

Published on 05 Apr 2023

Identifying the genetic causes of phenotypically diagnosed Pakistani mucopolysaccharidoses patients by whole genome sequencing

in Genetics of Common and Rare Diseases

Rutaba Gul
Sabika Firasat
Mikkel Schubert
Asmat Ullah
Elionora Peña
Anne C. B. Thuesen
Mulazim Hussain
Frederik F. Staeger
Anette P. Gjesing
Anders Albrechtsen

Frontiers in Genetics

doi 10.3389/fgene.2023.1128850

6,391 views
7 citations

Original Research

Published on 24 Jan 2024

Psychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies

in Children and Health

Daniel Almeida do Valle
Tiago dos Santos Bara
Vanessa Furlin
Mara Lúcia Schmitz Ferreira Santos
Mara L. Cordeiro

Frontiers in Public Health

doi 10.3389/fpubh.2024.1305878

2,759 views
3 citations