Development of a scoring system to define lysosomal diseases

被引：0

作者：

Yuzyuk, Tatiana ^{[1
]}

Wilk, Matheus Vernet Machado Bressan ^{[2
]}

Goldstein, Jenny ^{[3
]}

Groopman, Emily ^{[4
]}

Mohan, Shruthi ^{[3
]}

Waddell, Amber ^{[3
]}

Fernandez, Raquel ^{[5
]}

Chen, Hongjie ^{[6
]}

Bali, Deeksha ^{[7
]}

Baudet, Heather ^{[3
]}

Clarke, Lorne ^{[8
]}

Hung, Christina ^{[9
]}

Mao, Rong ^{[10
]}

Craigen, William ^{[11
]}

Pinto e Vairo, Filippo ^{[2
]}

机构：

[1] ARUP Labs, Salt Lake City, UT USA

[2] Mayo Clin, Rochester, MN USA

[3] Univ N Carolina, Chapel Hill, NC 27515 USA

[4] Childrens Natl Hosp, Washington Dc, DC USA

[5] Amer Coll Genet & Genom, Bethesda, MD USA

[6] Prevent Genet Exact Sci, Marshfield, WI USA

[7] Duke Univ Hlth Syst, Durham, NC USA

[8] Univ British Columbia, Vancouver, BC, Canada

[9] Invitae, San Francisco, CA USA

[10] Univ Utah, Salt Lake City, UT USA

[11] Baylor Coll Med, Houston, TX 77030 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2024年 / 141卷 / 04期

关键词：

D O I：

10.1016/j.ymgme.2024.108294

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

119

引用

页数：1

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