A novel homozygous missense variant in <em>ARSK</em> 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

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

Short communication | 更新时间：2024-02-04

- A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis
- A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis
- Genes & Diseases 2024年11卷第3期
- 作者机构：
  
  1. Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism,Amsterdam,the Netherlands,1105 BK
  2. Division of Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles/Keck School of Medicine of USC,CA,Los Angeles,USA,90027
  3. Core Facility Metabolomics, Amsterdam UMC Location University of Amsterdam,Amsterdam,the Netherlands,1100 DD
  4. Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles/Keck School of Medicine of USC,CA,Los Angeles,USA,90027
  5. Department of Radiology, Children's Hospital Los Angeles/Keck School of Medicine of USC,CA,Los Angeles,USA,90027
  6. Amsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9,Amsterdam,the Netherlands,1100 DE
  7. Department of Chemistry, Biochemistry, Bielefeld University,Bielefeld,Germany,33615
  8. Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, Graz,Austria,8036
- 作者简介：
- 基金信息：
- DOI：10.1016/j.gendis.2023.06.003
  中图分类号：
- 纸质出版日期：2024，
  
  网络出版日期：2024-5-1，
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Miao Sun, Cornelia K. Kaminsky, Philip Deppe, 等. A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis[J]. Genes & Diseases, 2024,11(3).

Miao Sun, Cornelia K. Kaminsky, Philip Deppe, et al. A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis[J]. Genes & Diseases, 2024,11(3).
Miao Sun, Cornelia K. Kaminsky, Philip Deppe, 等. A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis[J]. Genes & Diseases, 2024,11(3). DOI： 10.1016/j.gendis.2023.06.003.

Miao Sun, Cornelia K. Kaminsky, Philip Deppe, et al. A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis[J]. Genes & Diseases, 2024,11(3). DOI： 10.1016/j.gendis.2023.06.003.

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

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

DOI：10.1016/j.gendis.2023.06.003

摘要

Abstract

关键词

Keywords

references