Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1981.tb01036.x/fullpdf
Reference16 articles.
1. Studies in metachromatic leucodystrophy. Multiple sulfatase deficiency;Austin;Arch. Neurol.,1973
2. Multiple sulfatase deficiency of mucopolysaccharide sulfatases in mucosulfatidosis;Basner;Pediat. Res.,1979
3. A sensitive fluorescence assay for the simultaneous and separate determination of aryl-sulfatase A and B;Christomanou;Clin. Chim. Acta,1977
4. Enzymatic studies of sulfatases in tissues of the normal human and in metachromatic leucodystrophy with multiple sulfatase deficiencies, arylsulfatase A, B & C. cerebroside sulfatase, psychosine sulfatase and steroid sulfatase;Eto;J. Neurochem.,1974
5. Presence of arylsulfatase A in multiple sulfatase deficiency disorders fibroblasts;Fluharty;Amer. J. hum. Genet.,1978
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1. Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort;JIMD Reports;2020-12-08
2. Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification;International Journal of Molecular Sciences;2020-05-13
3. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins;Biochimica et Biophysica Acta (BBA) - Molecular Cell Research;2009-04
4. Multiple Sulfatase Deficiency Is Caused by Mutations in the Gene Encoding the Human Cα-Formylglycine Generating Enzyme;Cell;2003-05
5. Disorders of Lipid Metabolism;Genetic Disorders and the Fetus;1986
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