Publications:

The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wasserstein, Melissa P MP; Caggana, Michele M; Bailey, Sean M SM; Desnick, Robert J RJ; Edelmann, Lisa L; Estrella, Lissette L; Holzman, Ian I; Kelly, Nicole R NR; Kornreich, Ruth R; Kupchik, S Gabriel SG; Martin, Monica M; Nafday, Suhas M SM; Wasserman, Randi R; Yang, Amy A; Yu, Chunli C; Orsini, Joseph J JJ

Publication Date: 2019-03

Variant appearance in text: IDUA: 1088G>A; R363H

PubMed Link: 30093709

Variant Present in the following documents:

• Main text

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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: R363H

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.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: 1088G>A; R363H

PubMed Link: 21734815

Variant Present in the following documents:

• Main text
• gmb-34-2-195.pdf

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