There are a few things that physicians do their best to avoid when a patient is under their care. One of the most basic things to check, for example, is the patient’s allergy status to avoid needless drug reactions that can sometimes be life-threatening. Another thing that is always on a physician’s mind is the…
In Pompe disease, the mutational landscape and the amount of AAG activity determine the disease severity, tissue impairment, and age of onset.
How does our comprehension of fatty acid oxidation impact the management of long chain fatty acid oxidation disorder?
Researchers issued updated recommendations for the treatment of acquired hemophilia A based on new evidence.
The thrust of medical progress in treating SMA type 1 is now to bring it into the realm of rare but manageable diseases.
Cellular senescence contributes to the macromolecular damage and metabolic dysregulation seen in many diseases, including IPF.
We know the classical symptoms of LAL-D, but what does it have to do with bone health? We explore this question and more.
A review article reveals that lung and liver transplantation have favorable outcomes in AATD patients with end-stage lung and liver diseases.
Increasing evidence suggests that cardiac malfunction is a relevant cause of morbidity and mortality in patients with DMD.
We explore the role of genomic sequencing in diagnosing Alagille syndrome and some of the dilemmas of genetic testing for this disease.
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