Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1990.tb03519.x/fullpdf
Reference19 articles.
1. Carrier detection in Hunter syndrome;Archer;Am. J. Med. Genet.,1983
2. Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for the sulfa-tase A deficiency in metachromatic leukody-strophy (MLD) urine;Austin;Arch. Neurol.,1966
3. The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfat-ase;Bach;Proc. Natl. Acad. Sci., USA,1973
4. The assay of arylsulfatases A and B in human urine;Baum;Clin. Chim. Acta,1959
5. Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation;Broadhead;Clin. Genet.,1986
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1. Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II;International Journal of Neonatal Screening;2022-01-21
2. Lysosomal storage diseases: mucopolysaccharidosis type I and II;Pediatrician (St. Petersburg);2021-10-13
3. Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation;Human Mutation;2020-06-19
4. Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome);Expert Opinion on Orphan Drugs;2017-03-08
5. A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus;JIMD Reports;2014
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