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
Affiliations
Miao Sun
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; Corresponding author.
Cornelia K. Kaminsky
Department of Radiology, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA
Philip Deppe
Department of Chemistry, Biochemistry, Bielefeld University, Bielefeld 33615, Germany
Mai-Britt Ilse
Department of Chemistry, Biochemistry, Bielefeld University, Bielefeld 33615, Germany
Frédéric M. Vaz
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; Amsterdam Gastroenterology Endocrinology Metabolism, Inborn Errors of Metabolism, Amsterdam 1105 BK, the Netherlands; Core Facility Metabolomics, Amsterdam UMC Location University of Amsterdam, Amsterdam 1100 DD, the Netherlands
Barbara Plecko
Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, Graz 8036, Austria
Torben Lübke
Department of Chemistry, Biochemistry, Bielefeld University, Bielefeld 33615, Germany
Linda M. Randolph
Division of Medical Genetics, Department of Pediatrics, Children's Hospital Los Angeles/Keck School of Medicine of USC, Los Angeles, CA 90027, USA; Corresponding author.
