Carrier detection in Sanfilippo syndrome type B: report of six families-Reference-Cited by-同舟云学术

Carrier detection in Sanfilippo syndrome type B: report of six families

Published:2008-04-23 Issue:2 Volume:20 Page:135-140
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Vance J. M.,Conneally P. M.,Wappner R. S.,Yu P. L.,Brandt I. K.,Pericak-Vance M. A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1981.tb01818.x/fullpdf

Reference17 articles.

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2. Absence of hexosaminidase A and B in a normal adult;Dreyfus;New Engl. J. Med.,1975

3. Neuropathy in mucopolysaccharidosis type 3;Fowler;Electromyogr. clin. Neurophysiol.,1974

4. Moglichkeit von Serum Heterozygorentests bei genetischen Mucopolysaccharidosen;Gehler;Mschr. Kinderheilk.,1974

5. Defective heparan sulfate metabolism in the Sanfilippo Syndrome and assay of the defect in the assessment of the mucopolysaccharidosis patient;Gordon;Clin. Bio-chem.,1975

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1. Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease;Journal of Clinical Medicine;2020-01-27

2. Mucopolysaccharidosis 3;Atlas of Genetic Diagnosis and Counseling;2017

3. Mucopolysaccharidosis 3;Atlas of Genetic Diagnosis and Counseling;2016

4. The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape;Molecular Genetics and Metabolism;2014-09

5. Mucopolysaccharidosis type III ( S anfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder;Acta Paediatrica;2013-02-06