galactosialidosis
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Galactosialidosis — Classification and external resources OMIM 256540 DiseasesDB 33441 Galactosialidosis is a lysosomal storage disease … Wikipedia
galactosialidosis — una glucoproteínosis caraterizad por depósitos de Oligosacáridos sialilados (orina, tejidos) debido a una deficiencia en betagalactosidasa y sialidasa (debido al defecto en una proteína estabilizadora). Se observa en tres formas: Forma infantil… … Diccionario médico
galactosialidosis — ga·lac·to·si·al·i·do·sis (gə lak″to si al″ĭ doґsis) an autosomal recessive lysosomal storage disease caused by mutations in the CTSA gene (locus: 20q13.1), which encodes cathepsin A, resulting in deficiency of both… … Medical dictionary
Goldberg syndrome — galactosialidosis … Medical dictionary
Galactosialidose — Klassifikation nach ICD 10 E77.8 Sonstige Störungen des Glykoproteinstoffwechsels … Deutsch Wikipedia
Galaktosialidose — Klassifikation nach ICD 10 E77.8 Sonstige Störungen des Glykoproteinstoffwechsels … Deutsch Wikipedia
Goldberg-Syndrom — Klassifikation nach ICD 10 E77.8 Sonstige Störungen des Glykoproteinstoffwechsels … Deutsch Wikipedia
Neuraminidase-β-Galaktosidase-Mangel — Klassifikation nach ICD 10 E77.8 Sonstige Störungen des Glykoproteinstoffwechsels … Deutsch Wikipedia
Cathepsin A — Cathepsin A, also known as CTSA, is a human gene.cite web | title = Entrez Gene: CTSA cathepsin A| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=5476| accessdate = ] PBB Summary section title = summary… … Wikipedia
Glycoproteinosis — ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Glycoproteinosis (or glycoprotein storage disorders ) are lysosomal storage diseases affecting glycoproteins, resulting from defects in lysosomal function.Types* (E77.0)… … Wikipedia