multiple sulfatase deficiency
- metachromatic leukodystrophy and later also shows features of mucopolysaccharidoses, variably combining phenotypic features of the specific enzymatic defects. Neurologic deterioration is rapid. Called also mucosulfatidosis.
Medical dictionary. 2011.
Look at other dictionaries:
Multiple sulfatase deficiency — Classification and external resources OMIM 272200 MeSH D052517 Multiple sulfatase deficiency (also known as Austin dis … Wikipedia
Multiple familial trichoepithelioma — (also known as Brooke–Spiegler syndrome and Epithelioma adenoides cysticum ) is a cutaneous condition characterized by multiple cystic and solid nodules appearing on the face.:672 Types include: Type OMIM Gene Locus MFT1 601606 CYLD 16q12 q13… … Wikipedia
sulfatase — 1. Trivial name for enzymes in EC group 3.1.6, the sulfuric ester hydrolases, which catalyze the hydrolysis of sulfuric esters (sulfates) to the corresponding alcohols plus inorganic sulfate; includes aryl , sterol, glycol , chondroitin, ch … Medical dictionary
deficiency — An insufficient quantity of some substance (as in dietary d. or hemoglobin d. in marrow aplasia); organization (as in mental d.); activity (as in enzyme d. or reduced oxygen carrying capacity of the blood), etc., of which the amount present is of … Medical dictionary
SUMF1 — Sulfatase modifying factor 1, also known as SUMF1, is a human gene.cite web | title = Entrez Gene: SUMF1 sulfatase modifying factor 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=285362| accessdate = ]… … Wikipedia
SUMF2 — Sulfatase modifying factor 2, also known as SUMF2, is a human gene.cite web | title = Entrez Gene: SUMF2 sulfatase modifying factor 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=25870| accessdate = ]… … Wikipedia
List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… … Wikipedia
Arylsulfatase A — PDB rendering based on 1auk … Wikipedia
List of diseases (M) — A list of diseases in the English wikipedia.DiseasesTOC MaMac* Mac Ardle disease * Mac Dermot Patton Williams syndrome * Mac Dermot Winter syndromeMaci Macr* Macias Flores Garcia Cruz Rivera syndrome * Mackay Shek Carr syndrome * Macleod Fraser… … Wikipedia
Lysosomale Speicherkrankheiten — (LSK) sind eine Gruppe von etwa 45 genetisch bedingten Stoffwechselerkrankungen, die durch Fehlfunktionen im Lysosom ausgelöst werden. Die Erkrankungen sind monogenetisch. In der angelsächsischen Fachliteratur wird meist der Begriff Lysosomal… … Deutsch Wikipedia