Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan-Reference-Cited by-同舟云学术

Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan

Published:2018-05-25 Issue:1 Volume:13 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Chuang Chih-Kuang,Lin Hsiang-Yu,Wang Tuan-Jen,Huang You-Hsin,Chan Min-Ju,Liao Hsuan-Chieh,Lo Yun-Ting,Wang Li-Yun,Tu Ru-Yi,Fang Yi-Ya,Chen Tzu-Lin,Ho Hui-Chen,Chiang Chuan-Chi,Lin Shuan-Pei

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0816-4.pdf

Reference61 articles.

1. Besley GTN, Wraith JE. Lysosomal disorders. Curr Paediatr. 1997;7(2):128–34.

2. Wraith JE. Mucopolysaccharidoses. Curr Paediatr. 1996;6(2):74–9.

3. Neufeld E, Muenzer J. The mucopolysaccharidoses. In Valle D, Beaudet L, Vogelstein B, et al. The Online Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill Global Education Holdings. 2001. https://doi.org/10.1036/ommbid.165 .

4. Lin HY, Chuang CK, Chen MR, et al. Natural history and clinical assessment of Taiwanese patients with mucopolysaccharidosis IVA. Orphanet J Rare Dis. 2014;9:21.

5. Lin HY, Lin SP, Chuang CK, et al. Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A. 2009;149A(5):960–4.

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