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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

    • Genes & Diseases   Vol. 11, Issue 3, (2024)
    • 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

    • DOI:10.1016/j.gendis.2023.06.003    

      CLC:
    • Published:2024,

      Published Online:1 May 2024,

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  • 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 11(3).(2024) DOI: 10.1016/j.gendis.2023.06.003.

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