Patients 2 and 3 were prenatally diagnosed with Pompe disease and were enrolled in the study when the diagnosis was confirmed postnatally in skin fibroblasts and/or muscle biopsy. Both patients 2 ...

This fundamental research conducted a molecular comparison between smooth muscle cells and adjacent fibroblast cells within lung blood vessels affected by pulmonary arterial hypertension. The study ...

(MENAFN- PR Newswire) Pompe disease results from a deficiency of an enzyme called acid-alpha-glucosidase (GAA), leading to massive lysosomal glycogen buildup in striated muscle, resulting in ...

Pompe disease results from a deficiency of an enzyme called acid-alpha-glucosidase (GAA), leading to massive lysosomal glycogen buildup in striated muscle, resulting in respiratory failure ...

Background Skeletal muscle mass (SMM) is inversely associated with cardiometabolic health and the ageing process. The aim of the present work was to evaluate the relation between SMM and 10 year ...

BANGKOK, April 3 (Reuters) - Extreme heat and heavy rain in Myanmar could cause disease outbreaks among earthquake survivors camping in the open, global aid bodies warned on Thursday, complicating ...

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Everyone with Pompe disease is diagnosed at different times in life, so the level of muscle weakness differs from person to person. My daily challenges might be different from those of the next person ...

Unfortunately for me, I lost my friends, even my best friend.I was diagnosed with Pompe disease at age 12. It wasn’t until years later that I began treatment, so my health declined rapidly over time.

MacPherson has been confined to an electric wheelchair and has had to rely on a ventilator since 1999 at the age of 19 when Pompe, a debilitating disease, overtook his body. He was diagnosed as a ...