By 4 months of age he demonstrated severe hypotonia, delayed motor development, and cardiomyopathy. Patients 2 and 3 were prenatally diagnosed with Pompe disease and were enrolled in the study ...

severe muscle hypotonia at birth, scoliosis at birth, scleral fragility, rupture of the ocular globe • Positive family history (e.g., affected siblings) • Physical findings include tissue ...

PTC Therapeutics' Kebilidi gains FDA accelerated approval as the first brain-administered gene therapy in the U.S. for AADC ...

Known as critical illness cover, living health insurance, or dread disease cover, this insurance provides a lump sum payment to the insured upon diagnosis of a severe illness. Introduced in South ...

Karyotype was normal, as were abdominal and renal ultrasonography. Severe hypotonia, drooping puffy eyelids, and bilateral limb edema became evident from the first month. Cerebral magnetic ...

Nov. 6, 2024 — Higher temperatures caused by anthropogenic climate change turned an ordinary drought into an exceptional one that parched the American West from 2020--22. A study has found that ...

Severe storms and reported tornadoes swept across Oklahoma early Sunday, causing injuries and widespread power outages, according to authorities. A destructive path of severe weather included ...

Severe storms and reported tornadoes tore through Oklahoma on Saturday into early Sunday, injuring at least 11 people, toppling power lines and trees, and leaving a trail of destruction. Multiple ...

Torrential rain lashed the south of France on Thursday, causing severe flooding and triggering alerts in several regions. The Ardèche has seen some of the worst conditions, with rivers ...