Novel therapies for mucopolysaccharidosis type III-Reference-Cited by-同舟云学术

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Novel therapies for mucopolysaccharidosis type III

Published:2020-09-28 Issue:1 Volume:44 Page:129-147
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Seker Yilmaz Berna¹²^ORCID,Davison James³,Jones Simon A.⁴,Baruteau Julien¹³⁵^ORCID

Affiliation:

1. Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health University College London London UK

2. Department of Paediatric Metabolic Medicine Mersin University Mersin Turkey

3. Metabolic Medicine Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK

4. Metabolic Medicine Manchester University NHS Foundation Trust Manchester UK

5. National Institute of Health Research Great Ormond Street Hospital Biomedical Research Centre London UK

Funder

Medical Research Council Canada

National Institute for Health Research

Türkiye Bilimsel ve Teknolojik Araştirma Kurumu

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12316

Reference169 articles.

1. Management of mucopolysaccharidosis type III.

2. Mucopolysaccharidosis type III ( S anfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder

3. Sleep disturbance in Sanfilippo syndrome: a parental questionnaire study

4. High prevalence of femoral head necrosis in Mucopolysaccharidosis type III (Sanfilippo disease): A national, observational, cross-sectional study

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1. Respiratory Complications in the Inborn Errors of Metabolism;Current Respiratory Medicine Reviews;2025-02

2. Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome;Nature Communications;2024-06-25

3. Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations;Gene;2024-06

4. Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy;International Journal of Molecular Sciences;2024-01-17

5. Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series;Molecular Syndromology;2024

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