A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis

Miao Sun; Cornelia K. Kaminsky; Philip Deppe; Mai-Britt Ilse; Frédéric M. Vaz; Barbara Plecko; Torben Lübke; Linda M. Randolph

doi:10.1016/j.gendis.2023.06.003

A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis

Miao Sun^*
, Cornelia K. Kaminsky
, Philip Deppe
, Mai-Britt Ilse
, Frédéric M. Vaz
, Barbara Plecko
, Torben Lübke
, Linda M. Randolph^*

^*Corresponding author for this work

University of Southern California
Bielefeld University
Amsterdam UMC
Medical University of Graz

Research output: Contribution to journal › Article › Academic › peer-review

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Original language	English
Article number	101025
Journal	Genes and Diseases
Volume	11
Issue number	3
DOIs	https://doi.org/10.1016/j.gendis.2023.06.003
Publication status	Published - 1 May 2024

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A-novel-homozygous-missense-variant-in-arsk-causes-mps-x-a-new-subtype-of-mucopolysaccharidosis.pdfFinal published version, 596 KBLicence: CC BY

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@article{82c9f1e809e540299ab0aaed729ddda9,

title = "A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis",

author = "Miao Sun and Kaminsky, \{Cornelia K.\} and Philip Deppe and Mai-Britt Ilse and Vaz, \{Fr{\'e}d{\'e}ric M.\} and Barbara Plecko and Torben L{\"u}bke and Randolph, \{Linda M.\}",

note = "Funding Information: The authors are grateful to the family for their generous contribution to this work.",

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doi = "10.1016/j.gendis.2023.06.003",

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T1 - A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis

AU - Sun, Miao

AU - Kaminsky, Cornelia K.

AU - Deppe, Philip

AU - Ilse, Mai-Britt

AU - Vaz, Frédéric M.

AU - Plecko, Barbara

AU - Lübke, Torben

AU - Randolph, Linda M.

N1 - Funding Information: The authors are grateful to the family for their generous contribution to this work.

PY - 2024/5/1

Y1 - 2024/5/1

UR - https://www.scopus.com/pages/publications/85182006672

U2 - 10.1016/j.gendis.2023.06.003

DO - 10.1016/j.gendis.2023.06.003

M3 - Article

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SN - 2352-3042

VL - 11

JO - Genes and Diseases

JF - Genes and Diseases

IS - 3

M1 - 101025

ER -

A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis

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