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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
  • Newborn Screening FACT Sheet Pompe Disease
    Pompe Disease is a lysosomal disease caused by changes in the acid alpha-glucosidase (GAA) gene It is an autosomal recessive inheritance, meaning both parents are genetic carriers of the disease but don’t have the disease itself
  • Pompe Disease | Newborn Screening
    Find information about newborn screening for Pompe disease, including causes, signs, symptoms, and treatment
  • 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
  • Pompe Disease | Nemours KidsHealth
    Pompe disease is a rare genetic condition that causes muscle weakness that gets worse over time It can have a serious effect on many of the body's systems Pompe disease is also called acid maltase deficiency disease and glycogen storage disease type II The younger a child is at diagnosis, the
  • Pompe Disease: Symtoms, Causes, Treatments - WebMD
    Pompe disease happens when your body can't make a protein that breaks down a complex sugar, called glycogen, for energy Too much sugar builds up and damages your muscles and organs
  • Pompe Disease | Mount Sinai - New York
    Lysosomal Storage Disease Program Lysosomal Storage Disease Information Medical Genetics and Genomics Pompe Disease Pompe disease is caused by mutations in the GAA gene Mutations in the GAA gene result in the deficiency of an enzyme, acid alpha-glucosidase, that is necessary for the breakdown of a particular fatty substance, glycogen
  • Pompe Disease
    Pompe Disease Pompe disease, also known as acid maltase deficiency (AMD) or glycogen storage disease II, is a rare, inherited glycogen storage disease that afects the heart and skeletal muscles There are two types of Pompe disease: infantile-onset and noninfantile-onset (juvenile or adult)
  • Pompe Disease
    What is Pompe Disease? Pompe disease is an autosomal recessively inherited metabolic disorder that affects one of more than 40 lysosomal enzymes Patients with Pompe disease have a total absence or partial deficiency of the lysosomal enzyme acid a-glucosidase (GAA) due to mutations in the GAA gene As a result, the body is unable to breakdown lysosomal glycogen, which leads to massive glycogen





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