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index medicus (8) 8
humans (7) 7
msd (7) 7
multiple sulfatase deficiency (7) 7
biochemistry & molecular biology (4) 4
disease (4) 4
female (4) 4
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sulfatases - genetics (4) 4
catalytic mechanism (3) 3
crystal structure (3) 3
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sulfatase (3) 3
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active-site (2) 2
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infant, newborn (2) 2
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molscript (2) 2
mutation analysis (2) 2
program (2) 2
protein conformation (2) 2
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sphingolipidoses - genetics (2) 2
aav, adeno-associated virus (1) 1
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alkaline-phosphatase (1) 1
ars, arylsulfatase (1) 1
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brain - pathology (1) 1
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Journal Article
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES, ISSN 1570-0232, 08/2019, Volume 1124, pp. 109 - 113
Journal Article
Biochemical Journal, ISSN 0264-6021, 04/2007, Volume 403, Issue 2, pp. 305 - 312
Sulfatases are enzymes that hydrolyse a diverse range of sulfate esters. Deficiency of lysosomal sulfatases leads to human diseases characterized by the... 
Adeno-associated virus (AAV) | Sulfatase | Lentivirus | Sulfatase-modifying factor 1 (SUMF1) | Formylglycine-generating enzyme (FGE) | Lysosomal storage disorder | adeno-associated virus (AAV) | FORMYLGLYCINE-GENERATING ENZYME | GENE DELIVERY | BIOCHEMISTRY & MOLECULAR BIOLOGY | sulfatase | METACHROMATIC LEUKODYSTROPHY | ARYLSULFATASE-A | lysosomal storage disorder | LENTIVIRAL VECTORS | THERAPY | MOUSE MODEL | DISEASE | formylglycine-generating enzyme (FGE) | MICE | sulfatase-modifying factor 1 (SUMF1) | MPS-IIIA | lentivirus | Sulfatases - genetics | Isoenzymes - genetics | Humans | Cells, Cultured | Male | Sulfatases - deficiency | Mutation - genetics | Cysteine - genetics | Protein Transport | Lentivirus - metabolism | Animals | Muscles - enzymology | Isoenzymes - metabolism | Sulfatases - metabolism | Adenoviridae - genetics | Lentivirus - genetics | Cysteine - metabolism | Mice | Index Medicus | HSPC, haemopoietic stem | MPS, mucopolysaccharidosis | progenitor cells | AAV, adeno-associated virus | SUMF1, sulfatase-modifying factor 1 | BM, bone marrow | DMEM, Dulbecco's modified Eagle's medium | CDPX, X-linked dominant chondrodysplasia punctata | LV, lentivirus | MSD, multiple sulfatase deficiency | PBMC, peripheral blood mononuclear cell | GFP, green fluorescent protein | MLD, metachromatic leukodystrophy | IDS, iduronate sulfatase | GAG, glycosaminoglycan | p-NC, p-nitrocatechol sulfate | DAPI, 4′,6-diamidino-2-phenylindole | ARS, arylsulfatase | HA, haemagglutinin | PGK, phosphoglycerate kinase | SGSH, sulfamidase | CMV, cytomegalovirus | HEK-293T, human embryonic kidney
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 2004, Volume 23, Issue 6, pp. 576 - 581
Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1,... 
DIAGNOSIS | multiple sulfatase deficiency | FLUOROMETRIC ENZYME ASSAY | SUMF1 | REGION | clinical presentation | XP22.3 | CLONING | mutation analysis | DISEASE | GENETICS & HEREDITY | GENE FAMILY | CLUSTER | MSD
Journal Article
STRUCTURE, ISSN 0969-2126, 06/2001, Volume 9, Issue 6, pp. 483 - 491
Background: Sulfatases constitute a family of enzymes with a highly conserved active site region including a C alpha -formylglycine that is posttranslationally... 
catalytic mechanism | ACTIVE-SITE | CONVERSION | BIOCHEMISTRY & MOLECULAR BIOLOGY | sulfatase | FORMYLGLYCINE | CYSTEINE | multiple sulfatase deficiency (MSD) | formylglycine hydrate | CELL BIOLOGY | REFINEMENT | MOLSCRIPT | BIOPHYSICS | SERINE | PROTEIN MODIFICATION | crystal structure | PROGRAM | ELECTRON-DENSITY
Journal Article
European Journal of Pediatrics, ISSN 0340-6199, 08/2009, Volume 168, Issue 8, pp. 969 - 973
Journal Article
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