Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting-Reference-Cited by-同舟云学术

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Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting

Published:2021-03-26 Issue: Volume: Page:
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Fuller Maria¹²^ORCID,Ketteridge David³

Affiliation:

1. Genetics and Molecular Pathology, SA Pathology Women's and Children's Hospital North Adelaide South Australia Australia

2. Adelaide Medical School University of Adelaide Adelaide South Australia Australia

3. Metabolic Unit Women's and Children's Hospital North Adelaide South Australia Australia

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12214

Reference18 articles.

1. Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment

2. Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion.

3. Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry

4. Disease-specific non–reducing end carbohydrate biomarkers for mucopolysaccharidoses

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses;Molecular Genetics and Metabolism;2024-08

2. Endogenous, non-reducing end glycosaminoglycan biomarkers for the mucopolysaccharidoses: Accurate diagnosis and elimination of false positive newborn screening results;Molecular Genetics and Metabolism;2023-11

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