This case presents an infant male child who initially presented with clinical features resembling glycogen storage disease type I (GSD I), including hepatomegaly, a doll-like face and metabolic ...
Modern Engineering Marvels on MSN
GRIN2A null variants linked to childhood-onset mental disorders and L-serine therapy
Could one genetic mutation be sufficient to bring on complex psychopathology? For decades, dominant models of mental ...
A recent study published in Nature Metabolism has revealed the pathogenic mechanism underlying a rare pediatric neurodegenerative disorder known as mitochondrial enoyl reductase protein-associated ...
A designer version of the tau protein, developed by a team led by UT Southwestern Medical Center researchers, maintains its ...
Additionally, pathogenic and benign variants can co-exist in almost every disease-associated gene. As such, gaining a better understanding of the mechanistic differences between benign and pathogenic ...
XORTX Therapeutics Inc. (" XORTX " or the “ Company ”) (NASDAQ: XRTX | TSXV: XRTX | Frankfurt: ANU), a late-stage clinical pharmaceutical company focused on developing innovative therapies to treat ...
The Maryland Department of Agriculture has announced a presumptive positive case of H5 avian influenza in a commercial ...
A highly pathogenic avian influenza was found in a herd of dairy cattle in Wisconsin, the latest in an ongoing outbreak of the disease, the US Department of Agriculture said Sunday.
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