Genotype–phenotype relationship in mucopolysaccharidosisII: predictive power ofIDSvariants for the neuronopathic phenotype-Reference-Cited by-同舟云学术

Genotype–phenotype relationship in mucopolysaccharidosisII: predictive power ofIDSvariants for the neuronopathic phenotype

Published:2017-05-25 Issue:10 Volume:59 Page:1063-1070
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:Dev Med Child Neurol

Author:

Vollebregt Audrey A M¹²,Hoogeveen‐Westerveld Marianne¹³,Kroos Marian A¹³,Oussoren Esmee¹²,Plug Iris¹²,Ruijter George J⁴,van der Ploeg Ans T¹²,Pijnappel W W M Pim¹²³^ORCID

Affiliation:

1. Center for Lysosomal and Metabolic Diseases Erasmus Medical Center Rotterdam The Netherlands

2. Department of Pediatrics Division of Metabolic Diseases and Genetics Erasmus Medical Center – Sophia Children's Hospital Rotterdam The Netherlands

3. Molecular Stem Cell Biology Department of Clinical Genetics Erasmus Medical Center Rotterdam The Netherlands

4. Department of Clinical Genetics Erasmus Medical Center Rotterdam the Netherlands

Publisher

Wiley

Subject

Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/dmcn.13467

Reference29 articles.

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2. Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis

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4. Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS)

5. The mucopolysaccharidoses: characterization by cranial MR imaging;Lee C;AJNR Am J Neuroradiol,1993

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