WebEnglish Translation of “pomper” The official Collins French-English Dictionary online. Over 100,000 English translations of French words and phrases. WebDec 22, 2024 · Pompe disease is a rare genetic condition that causes an abnormal buildup of glycogen, a sugar molecule, inside your cells. That buildup can impair how some of your organs and tissues function. The most commonly affected body areas are the heart, respiratory system, and skeletal muscles. Pompe disease can lead to weakness and …
Pompe (Inherited Metabolic Disorders) CUH
WebPompe disease happens because of a mutation (change) in a gene that helps make an enzyme called acid alpha-glucosidase. This enzyme breaks down a type of glucose called glycogen. When the enzyme is not made properly, glycogen builds up in the body's cells. This stops the cells — especially those in the body's muscles, including the heart ... WebJun 1, 2006 · Pompe disease, also referred to as acid maltase deficiency (AMD) or glycogen storage disease type II (GSDII), is an autosomal recessive disorder caused by a deficiency of the lysosomal enzyme acid ... 地球グミ
PDBS - Overview: Pompe Disease, Blood Spot - mayocliniclabs.com
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