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

Affiliations

• ¹ Division of Genomic Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA.
• ² Department of Radiology, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA.
• ³ Department of Chemistry, Biochemistry, Bielefeld University, Bielefeld 33615, Germany.
• ⁴ Amsterdam UMC Location University of Amsterdam, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Emma Children's Hospital, Meibergdreef 9, Amsterdam 1100 DE, the Netherlands.
• ⁵ Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam 1105 BK, the Netherlands.
• ⁶ Core Facility Metabolomics, Amsterdam UMC Location University of Amsterdam, Amsterdam 1100 DD, the Netherlands.
• ⁷ Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, Graz 8036, Austria.
• ⁸ Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA.