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 ...

On Thursday, the FDA granted accelerated approval to PTC Therapeutics, Inc.’s (NASDAQ:PTCT) gene therapy for AADC deficiency, ...

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 ...

In adults the joint pain and fatigue associated with hypermobility-type EDS can be misdiagnosed as chronic fatigue syndrome, hypochondriasis, or depression. [25] Vascular-type EDS may also be ...

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 ...

The U.S. Food and Drug Administration approved Kebilidi (eladocagene exuparvovec-tneq), an adeno-associated virus vector-based gene therapy indicated for the treatment of adult and pediatric patients ...

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 ...

Widespread flooding and landslides set off by a tropical storm in the northeastern Philippines on Thursday left at least 24 people dead, swept away cars and prompted authorities to scramble for ...

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 ...