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Pompe Disease: Symptoms Treatment - Cleveland Clinic Pompe disease is a rare genetic condition that causes muscle weakness that can lead to life-threatening complications Learn more about the symptoms and treatment of this disorder
Pompe Disease - Symptoms, Causes, Treatment | NORD Learn about Pompe Disease, including symptoms, causes, and treatments If you or a loved one is affected by this condition, visit NORD to find resources and
Glycogen storage disease type II - Wikipedia Glycogen storage disease type II (GSD-II), also called Pompe disease, and formerly known as GSD-IIa or Limb–girdle muscular dystrophy 2V, is an autosomal recessive metabolic disorder [1] which damages muscle and nerve cells throughout the body It is caused by an accumulation of glycogen in the lysosome due to a deficiency of the lysosomal acid alpha-glucosidase enzyme (GAA) The inability
Pompe Disease | Newborn Screening What is Pompe disease? Pompe disease is an inherited (genetic) condition that prevents the body from processing sugars properly Pompe disease is named for the first doctor to describe the condition Your body stores extra sugar as glycogen, which it then uses for energy An enzyme called acid alpha-glucosidase (GAA) breaks down glycogen to help provide that energy This process takes place in
Pompe disease diagnosis and management guideline - PMC Pompe disease is a rare, progressive, and often fatal muscular disease The underlying pathology is a deficiency of the enzyme acid alpha-glucosidase (GAA) that hydrolyzes lysosomal glycogen Pompe disease is a single disease which manifests as a clinical spectrum that varies with respect to age at onset, rate of disease progression, and extent of organ involvement The advent of enzyme
How Is Pompe Disease Treated? - WebMD To get the best care for Pompe disease, you need treatment from a team of health care professionals Here’s what treatment for you or your child may include
Pompe | Babys First Test | Newborn Screening | Baby Health Pompe is an inherited condition that affects many different parts of the body It is considered a lysosomal storage disorder because people with Pompe have lysosomes (the recycling center of each cell) that cannot break down certain types of complex sugars This causes undigested sugar molecules and other harmful substances to build up in cells throughout the body, resulting in a variety of
Pompe Disease News Home | Pompe Disease News Get the latest news on Pompe disease, its causes, symptoms, diagnosis, and treatments Hear patient and caregiver voices from our growing Pompe community