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 ...

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 ...

(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 ...

The drug is a recombinant version of the enzyme alpha-glucosidase, which is deficient in Pompe disease, leading to the accumulation of glycogen to toxic levels that damage muscle cells.

"Labcorp is dedicated to providing oncologists with a comprehensive portfolio of innovative solutions that enable precise, timely and personalized treatment decisions," said Shakti Ramkissoon, M.D ...

Labcorp Plasma Detect detects molecular residual disease, which is defined as the subclinical presence of a cancer-associated biomarker indicating a high risk of recurrence, which cannot be ...

Patients with advanced solid tumors experienced significantly improved survival outcomes when receiving a tailored therapy ...

Background Muscle wasting and weakness (sarcopenia) are commonly associated with COPD causing frailty and reduced quality of ...