Living cells contain a world of complex parts, which are constantly in motion. Many functions of these parts are still not fully understood, but likely harbor answers to many of our questions about ...

The journey of rare disease patients and their families can be a long one marked by misdiagnoses, and so it is for those who have the ultra-rare disorder with the abbreviated name PMM2-CDG. This ...

Liver diseases are commonly diagnosed using serum enzyme assays, particularly for aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), gamma-glutamyl ...

Shionogi’s IntraBio acquisition brings Aqneursa, a drug approved for treating two rare neurological disorders and the potential to expand to additional indications, both rare and common. It’s Shionogi ...

Neurodegenerative disorders often stem from impaired mitochondrial function, where enzyme deficiencies compromise energy production, redox balance and organellar integrity. Defects in key ...

Nov 13 (Reuters) - The U.S. Food and Drug Administration approved PTC Therapeutics' (PTCT.O), opens new tab gene therapy to treat a potential fatal enzyme deficiency disorder, the company said on ...

A new review in BMC Medicine proposes that endogenous lithium deficiency worsens Alzheimer's disease by undermining cerebral ...

Liver diseases are commonly diagnosed using serum enzyme assays, particularly for aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), gamma-glutamyl ...

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and systemic ...

Liver diseases are commonly diagnosed using serum enzyme assays, particularly for aspartate aminotransferase (AST), alanine aminotransferase (ALT), alkaline phosphatase (ALP), gamma-glutamyl ...

The primary treatment approaches for Fabry disease include Enzyme Replacement Therapies (ERTs) and pharmacological chaperone ...