acid alpha-glucosidase deficiency

acid alpha-glucosidase deficiency
ac·id al·pha-glu·co·si·dase de·fi·cien·cy (asґid alґfə gloo-koґsĭ-dās) glycogen storage disease, type II.

Medical dictionary. 2011.

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  • Acid alpha-glucosidase — Glucosidase, alpha; acid, also known as GAA, is a human gene.cite web | title = Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView …   Wikipedia

  • Morbus Pompe — Klassifikation nach ICD 10 E74.0 Glykogenspeicherkrankheit …   Deutsch Wikipedia

  • Pompe-Krankheit — Klassifikation nach ICD 10 E74.0 Glykogenspeicherkrankheit …   Deutsch Wikipedia

  • Inborn error of metabolism — Classification and external resources ICD 10 E70 E90 ICD 9 …   Wikipedia

  • Maladie de Pompe — Référence MIM 232300 Transmission Récessive Chromosome 17 q25.2 q25.3 Gène GAA Empreinte parentale Non …   Wikipédia en Français

  • Maladie De Pompe — Autre nom Glycogénose type 2 Référence MIM 23 …   Wikipédia en Français

  • Maladie de pompe — Autre nom Glycogénose type 2 Référence MIM 23 …   Wikipédia en Français

  • Glycogen storage disease type II — Infobox Disease Name = Glycogen storage disease type II Caption = DiseasesDB = 5296 ICD10 = ICD10|E|74|0|e|70 ICD9 = ICD9|271.0 ICDO = OMIM = 232300 MedlinePlus = eMedicineSubj = med eMedicineTopic = 908 eMedicine mult = eMedicine2|ped|1866 |… …   Wikipedia

  • Pompe disease — A genetic (inherited) deficiency of an enzyme called acid alpha glucosidase. This enzyme helps the body break down glycogen, a complex carbohydrate that is converted to glucose for energy. Without the enzyme, glycogen builds up in the heart and… …   Medical dictionary

  • Hexosaminidase — β N acetylhexosaminidase Hexosaminidase A (Hex A) Identifiers EC number 3.2.1.52 …   Wikipedia

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