Make the Most of Your Doctor’s Visit When You Have Pompe Disease
Rare genetic diseases such as Pompe disease pose a challenge in effectively communicating your concerns to the doctor. Here are some tips to make ... Read more
Updates
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ACE Gene Variations Not Linked to Disease Variability or Response to ERT, Study Says
Natural genetic variations, or polymorphisms, in the ACE gene do not account for the large variability in disease course, or the response to enzyme ... Read more -
Dietary Considerations in Pompe Disease
Pompe disease is a rare genetic disorder caused by mutations in the GAA gene. It is characterized by the buildup of glycogen, a complex ... Read more -
Study Presents Clinical, Genetic Landscape of Pompe Disease
A new study reports the genetic and clinical characteristics of 113 U.S. children who have Pompe disease, the largest such group that has been ... Read more
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FAQs in Pompe Disease
Information about rare genetic disorders such as Pompe disease can be hard to find, complicating ... -
At NY Genome Center, Legal Expert Presents Ethical Dilemmas in Gene Editing
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is ... -
Amicus CEO John Crowley Outlines Progress in Pompe, Fabry, Batten Therapies
Pharmaceutical executives rarely make for a sympathetic Hollywood medical drama. But John Crowley did, ... -
ERT for Late-onset Pompe Not Linked to Increased Risk of White Matter Lesions
Aging and vascular risk factors, not enzyme replacement therapy or the disease itself, may ... -
Oklahoma Ranks Lowest on Programs Key to Rare Diseases on NORD’s 2019 State Report Card
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of ...
Researchers Develop Cheap, More Sensitive Screening Test for Pompe Diagnosis, Study Reports
News
Researchers have proposed a cheap, simple, and more sensitive screening test to identify Pompe disease and differentiate it from other neuromuscular disorders. The study, “Vacuolated PAS‐positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy,” was ... Read more