首页|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

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Miao Sun、Cornelia K.Kaminsky、Philip Deppec、Mai-Britt Ilse、Frédéric M.Vaz、Barbara Plecko、Torben Lübke、Linda M.Randolph

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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

Department of Radiology,Children's Hospital Los Angeles/Keck School of Medicine of USC,Los Angeles,CA 90027,USA

Department of Chemistry,Biochemistry,Bielefeld University,Bielefeld 33615,Germany

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

Department of Pediatrics,Division of General Pediatrics,Medical University of Graz,Graz 8036,Austria

Division of Medical Genetics,Department of Pediatrics,Children's Hospital Los Angeles/Keck School of Medicine of USC,Los Angeles,CA 90027,USA

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2024

基因与疾病(英文)

基因与疾病(英文)

ISSN:
年,卷(期):2024.11(3)
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