Pompe disease

См. также в других словарях:

• Pompe disease — Pompe disease. См. гликогеноз II типа. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

• 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

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

• Pompe's disease — Pom·pe s disease .päm pāz also Pom·pe disease pā n an often fatal glycogen storage disease that results from an enzyme deficiency, is characterized by abnormal accumulation of glycogen esp. in the liver, heart, and muscle, and usu. appears during …   Medical dictionary

• Pompe's disease — ▪ pathology also called  Glycogenosis Type Ii,         hereditary defect in the body s ability to metabolize glycogen, resulting in a muscle disorder that is usually fatal during the first year of life. The defect responsible, absence of the… …   Universalium

• Pompe's disease — Severe glycogen storage disease caused by deficiency in a (1 4) glucosidase, the lysosomal enzyme responsible for glycogen hydrolysis. Even though the non lysosomal glycogenolytic system is normal, glycogen still accumulates in the lysosomes …   Dictionary of molecular biology

• Disease — Illness or sickness often characterized by typical patient problems (symptoms) and physical findings (signs). Disruption sequence: The events that occur when a fetus that is developing normally is subjected to a destructive agent such as the… …   Medical dictionary

• Pompe — J.C., 20th century Dutch physician. See P. disease …   Medical dictionary

• 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

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

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