Publications:

Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry.

Frontiers In Pediatrics

Li, Ruotong R; Tian, Liping L; Gao, Qing Q; Guo, Yuanfang Y; Li, Gaijie G; Li, Yulin Y; Sun, Meng M; Yan, Yan Y; Li, Qing Q; Nie, Wenying W; Zou, Hui H

Publication Date: 2022

Variant appearance in text: GLA: 1019G>C

PubMed Link: 35419325

Variant Present in the following documents:

• Main text
• fped-10-814461.pdf

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Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy.

Molecular Genetics And Metabolism Reports

Tsukimura, Takahiro T; Tayama, Yuya Y; Shiga, Tomoko T; Hirai, Kanako K; Togawa, Tadayasu T; Sakuraba, Hitoshi H

Publication Date: 2020-12

Variant appearance in text: GLA: W340S

PubMed Link: 33072516

Variant Present in the following documents:

• Main text
• main.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: W340S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Frequency of de novo mutations in Japanese patients with Fabry disease.

Molecular Genetics And Metabolism Reports

Kobayashi, Masahisa M; Ohashi, Toya T; Iizuka, Sayoko S; Kaneshiro, Eiko E; Higuchi, Takashi T; Eto, Yoshikatsu Y; Ida, Hiroyuki H

Publication Date: 2014

Variant appearance in text: GLA: W340S

PubMed Link: 27896102

Variant Present in the following documents:

• Main text
• main.pdf

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