aspartylglucosaminuria

aspartylglucosaminuria
A rare autosomal-recessive lysosomal storage disorder caused by deficient activity of the enzyme aspartylglucosaminidase.

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  • Aspartylglucosaminuria — Infobox Disease Name = PAGENAME Caption = Aspartylglucosamine DiseasesDB = 952 ICD10 = ICD10|E|77|1|e|70 ICD9 = ICDO = OMIM = 208400 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Aspartylglucosaminuria (AGU), also called… …   Wikipedia

  • aspartylglucosaminuria — as·par·tyl·glu·co·sa·min·uria (ə spahr″təl gloo″kōs am″in uґre ə) a severe autosomal recessive lysosomal storage disease caused mutations in the AGA gene (locus: 4q32 q33), which encodes… …   Medical dictionary

  • AGU — aspartylglucosaminuria …   Medical dictionary

  • AGU — • aspartylglucosaminuria …   Dictionary of medical acronyms & abbreviations

  • Aspartylglucosaminidase — PDB rendering based on 1apy …   Wikipedia

  • АСПАРТИЛГЛИКОЗАМИНУРИЯ — мед. Аспартилгликозаминурия развивается при недостаточности гликозиласпарагиназы (*208400, КФ 3.5.1.26, 4q32 q33, ген AGU, 12 аллелей, р). Фермент расщепляет 2 ацетами до 1 (р 1 аспартамидо) 1,2 дидезоксиглюкозу. Экскреция этого соединения… …   Справочник по болезням

  • Glycoprotein — Not to be confused with peptidoglycan or proteoglycan. N linked protein glycosylation (N glycosylation of N glycans) at Asn residues (Asn x Ser/Thr motifs) in glycoproteins.[1] Glycoproteins are proteins that contain oligosaccharide chai …   Wikipedia

  • Congenital disorder of glycosylation — Congenital disorders of glycosylation Classification and external resources ICD 10 E77.8 ICD 9 271.8 …   Wikipedia

  • AGU — is a three letter abbreviation that may refer to All Grown Up!, a Nickelodeon cartoon series that ran from 2003 to 2006 (AGU could also refer to its Rugrats pilot episode All Growed Up ).It may also refer to:* Address Generation Unit, common part …   Wikipedia

  • Sialidosis — Classification and external resources Sialic acid ICD 10 E77.1 OMIM …   Wikipedia

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