Publications:

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases

Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB

Publication Date: 2017-07-04

Variant appearance in text: IDUA: Q584X

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

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An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life.

Orphanet Journal Of Rare Diseases

Kingma, Sandra D K SD; Langereis, Eveline J EJ; de Klerk, Clasine M CM; Zoetekouw, Lida L; Wagemans, Tom T; IJlst, Lodewijk L; Wanders, Ronald J A RJ; Wijburg, Frits A FA; van Vlies, Naomi N

Publication Date: 2013-07-09

Variant appearance in text: IDUA: Q584X

PubMed Link: 23837464

Variant Present in the following documents:

• Main text
• 1750-1172-8-99.pdf

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Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families.

Genetics And Molecular Biology

Sun, Luning L; Li, Chunyi C; Song, Xiaoyu X; Zheng, Ningning N; Zhang, Haipeng H; Dong, Guizhang G

Publication Date: 2011-04

Variant appearance in text: IDUA: Q584X

PubMed Link: 21734815

Variant Present in the following documents:

• Main text
• gmb-34-2-195.pdf

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