Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Diagnosis of Mucopolysaccharidoses

(2020) Francyne Kubaski et al.   Diagnostics

Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate

(2020) Christof Trabszo et al.   BIOCHEMICAL JOURNAL

Nosology and classification of genetic skeletal disorders: 2019 revision

(2019) Geert R. Mortier et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

(2015) Eveline J. Langereis et al.   PLoS One

Molecular Characterization of Arylsulfatase G

(2014) Björn Kowalewski et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Arylsulfatase K, a Novel Lysosomal Sulfatase

(2013) Elena Marie Wiegmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glycan-based biomarkers for mucopolysaccharidoses

(2013) Roger Lawrence et al.   MOLECULAR GENETICS AND METABOLISM