Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type II-Reference-Cited by-同舟云学术

Diagnosing Lysosomal Storage Disorders: Mucopolysaccharidosis Type II

Published:2013-10-18 Issue: Volume: Page:17.14.1-17.14.9
ISSN:
Container-title:Current Protocols in Human Genetics
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Author:

Johnson Britt A.¹,van Diggelen Otto P.,Dajnoki Angela¹,Bodamer Olaf A.¹

Affiliation:

1. Division of Clinical and Translational Genetics, Dr. John T. MacDonald Foundation Department of Human Genetics; University of Miami Miller School of Medicine; Miami; Florida

Publisher

John Wiley & Sons, Inc.

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/0471142905.hg1714s79/fullpdf

Reference9 articles.

1. Cumulative incidence rates of the mucopolysaccharidoses in Germany;Baehner;J. Inherit. Metab. Dis.,2005

2. Twelve different enzyme assays on dried-blood filter paper samples for detection of patients with selected inherited lysosomal storage diseases;Civallero;Clin. Chim. Acta,2006

3. Incidence of the mucopolysaccharidoses in Western Australia;Nelson;Am. J. Med. Genet. A,2003

4. The mucopolysaccharidoses;Neufeld,2001

5. The frequency of lysosomal storage diseases in The Netherlands;Poorthuis;Hum. Genet.,1999

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1. Mucopolysaccharidosis type II detection by Naïve Bayes Classifier: An example of patient classification for a rare disease using electronic medical records from the Canadian Primary Care Sentinel Surveillance Network;PLOS ONE;2018-12-19

2. Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis;Molecular Genetics and Metabolism;2018-09

3. A Rapid Two-Step Iduronate-2-Sulfatatse Enzymatic Activity Assay for MPSII Pharmacokinetic Assessment;JIMD Reports;2017