Mortality in patients with Sanfilippo syndrome-Reference-Cited by-同舟云学术

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Mortality in patients with Sanfilippo syndrome

Published:2017-10-23 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Lavery Christine,Hendriksz Chris J.,Jones Simon A.

Funder

BioMarin Europe Ltd

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0717-y.pdf

Reference38 articles.

1. Parenti G, Andria G, Ballabio A. Lysosomal storage diseases: from pathophysiology to therapy. Annu Rev Med. 2015:66471–86.

2. Andrade F, Aldamiz-Echevarria L, Llarena M, Couce ML. Sanfilippo syndrome: overall review. Pediatr Int. 2015;573:331–8.

3. Kresse H. Mucopolysaccharidosis 3 a (Sanfilippo a disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes. Biochem Biophys Res Commun. 1973;543:1111–8.

4. von Figura K. Human alpha-N-acetylglucosaminidase. 1. Purification and properties. Eur J Biochem. 1977;802:523–33.

5. Klein U, Kresse H, von Figura K. Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts. Proc Natl Acad Sci U S A. 1978;7510:5185–9.

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