Fascination With Pompe Led Miami Neurologist to Netherlands Years Ago
Few people have heard of Pompe disease, and even fewer know anything about Joannes Cassianus Pompe — the Dutch pathologist who in 1931 characterized the ... Read more
Updates
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Chinese Pompe Patients Show Symptoms a Decade Earlier Than Others, Review Finds
Chinese patients with late-onset Pompe disease develop symptoms and are diagnosed at least 10 years earlier than patients from other areas of the world, ... Read more -
3 Rare Cases Link Atypical Symptoms, New Genetic Mutations to Juvenile-onset Pompe Disease
New genetic mutations and uncommon clinical symptoms, including skeletal alterations and developmental delay, were linked to juvenile-onset Pompe disease in three rare cases, making ... Read more -
Failed Activation of Satellite Cells Underlies Deficient Muscle Repair in Pompe Disease, Mouse Study Suggests
Muscle repair in Pompe disease is compromised by failed activation of muscle cells’ precursors called satellite cells (SCs), according to a study of mice. ... Read more -
Amicus Therapeutics Gets Two U.S. Patents as Part of AT-GAA Therapy’s Development
Amicus Therapeutics received two U.S. patents for ATB200, a unique recombinant (lab-made) human acid alpha-glucosidase (rhGAA) enzyme, and the biologic component of the company’s ... Read more
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Growth Factor Levels May Help Track Progression of Adult-onset Pompe Disease, Study Suggests
Measuring the blood levels of the platelet-derived growth factor BB (PDGF-BB) allows researchers to ... -
Brexit Could Have Real Effects for UK Rare Disease Patients, Experts Warn
Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will ... -
Rare Childhood Disorders Pose Significant Impact on Quality of Life of Children and Parents, Study Reports
Rare childhood disorders, including Pompe disease, pose a significant estimated impact on the quality of ... -
Moral Dilemmas Complicate Treatment of Rare Diseases, Says Israeli Bioethicist
With each new advance in medicine comes ethical dilemmas, from fertility treatments and newborn ... -
NIH Rare Disease Day Highlights Joint Networks Advancing Array of Research
Rare diseases affect about 30 million Americans — roughly the same number as those ... -
Amicus’ AT-GAA Gets FDA’s Breakthrough Therapy Designation
The U.S. Food and Drug Administration (FDA) has granted Breakthrough Therapy Designation (BTD) to ...
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