Publications:

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: rs753308650

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

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Analysis of endocrine hormone metabolism level in a Chinese patient with mucopolysaccharidosis IVA: A case report.

Medicine

Xu, Linxin L; Ren, Yi Y; Yin, Jianhong J; Yang, Jing J; Liu, Yunfeng Y; Zhang, Jin J; Zhang, Yi Y; Xiang, Chenyu C; Yang, Luyang L

Publication Date: 2018-09

Variant appearance in text: IDUA: Gly168Arg

PubMed Link: 30235707

Variant Present in the following documents:

• medi-97-e12393.pdf

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