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:https://doi.org/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

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

1 Citation (Scopus)

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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https://doi.org/10.1016/j.gendis.2023.06.003

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@article{1468706aaee14ad29fe6a306eff10bfd,

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.",

year = "2024",

month = may,

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doi = "https://doi.org/10.1016/j.gendis.2023.06.003",

language = "English",

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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 - http://www.scopus.com/inward/record.url?scp=85182006672&partnerID=8YFLogxK

U2 - https://doi.org/10.1016/j.gendis.2023.06.003

DO - https://doi.org/10.1016/j.gendis.2023.06.003

M3 - Article

C2 - 38292179

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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