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Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2018, Volume 123, Issue 3, pp. 337 - 346
Journal Article
Journal Article
JIMD Reports, ISSN 2192-8312, 09/2019, Volume 49, Issue 1, pp. 48 - 52
Multiple sulfatase deficiency (MSD) is an ultra‐rare lysosomal storage disorder (LSD). Mutations in the SUMF1 gene encoding the formylglycine generating enzyme... 
preterm birth | hydrops fetalis | formylglycine generating enzyme | multiple sulfatase deficiency | lysosomal storage disorder | SUMF1
Journal Article
Journal Article
Pediatrics, ISSN 0031-4005, 04/2009, Volume 123, Issue 4, pp. 1191 - 1207
Journal Article
Drug Design, Development and Therapy, ISSN 1177-8881, 08/2013, Volume 7, Issue default, pp. 729 - 745
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by the deficiency of arylsulfatase A (ASA), resulting in impaired... 
Metachromatic leukodystrophy | Arylsulfatase A | Small molecules | Enzyme enhancement therapy | Gene therapy | Enzyme replacement therapy | metachromatic leukodystrophy | MULTIPLE SULFATASE DEFICIENCY | CHEMISTRY, MEDICINAL | enzyme replacement therapy | arylsulfatase A | CONDURITOL-B-EPOXIDE | BONE-MARROW-TRANSPLANTATION | ARYLSULFATASE-A PSEUDODEFICIENCY | gene therapy | ENDOPLASMIC-RETICULUM STRESS | LYSOSOMAL STORAGE DISORDERS | enzyme enhancement therapy | HEMATOPOIETIC STEM-CELLS | MOUSE MODEL | PHARMACOLOGY & PHARMACY | CENTRAL-NERVOUS-SYSTEM | small molecules | Genetic Therapy | Leukodystrophy, Metachromatic - genetics | Leukodystrophy, Metachromatic - epidemiology | Leukodystrophy, Metachromatic - etiology | Humans | Alleles | Hematopoietic Stem Cell Transplantation | Leukodystrophy, Metachromatic - therapy | Enzyme Reactivators | Blood-Brain Barrier | Cerebroside-Sulfatase - genetics | Medical research | Care and treatment | Therapeutics | Medicine, Experimental | Research | Homeopathy | Materia medica and therapeutics | Brain | Regulators | Pathogenesis | Central nervous system | Delivery systems | Clinical trials | Stem cell transplantation | Transplantation | Biosynthesis | Chaperones | Sulfatide | Blood | Hematopoietic stem cells | Blood-brain barrier | Cord blood | Demyelination | Bone marrow | Genetic modification | Cerebroside-sulfatase | Enzymes | Signs and symptoms | Debilitation | Myelin | Leukodystrophy | Pharmacology | Patients | Mutants | Hereditary diseases | Hemopoiesis | Enhancers | Stem cells | Arylsulfatase | Umbilical cord | Index Medicus
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 1981, Volume 4, Issue 2, pp. 103 - 104
This male infant was first brought to attention in the neonatal period because he presented clinical and radiological evidence of multiple bone deformities. He... 
Abnormalities, Multiple - etiology | Cerebroside-Sulfatase - deficiency | Chondro-4-Sulfatase - deficiency | Humans | Arylsulfatases - deficiency | Infant | Male | Steryl-Sulfatase | Sulfatases - deficiency | Mucopolysaccharidosis II | Heparitin Sulfate - deficiency | Bone and Bones - abnormalities | Index Medicus
Journal Article
Journal Article
Physiology, ISSN 1548-9213, 04/2010, Volume 25, Issue 2, pp. 102 - 115
Journal Article