Results 191 to 200 of about 26,055 (351)
ABSTRACT Congenital adrenal hyperplasia (CAH) is a genetic disorder characterized by impaired cortisol production and consequent elevated adrenocorticotropic hormone (ACTH): CAH patients often require lifelong hydrocortisone therapy. Disease severity reflects residual 21‐hydroxylase enzyme activity, crucial for cortisol synthesis.
Davide Bindellini+7 more
wiley +1 more source
A rare inborn error of metabolism associated with a Dandy-Walker malformation. [PDF]
Manel L+4 more
europepmc +1 more source
Screening for inborn errors of metabolism among newborns with metabolic disturbance and/or neurological manifestations without determined cause [PDF]
Allan Chiaratti de Oliveira+3 more
openalex +1 more source
Neural mechanisms and clinical features of anti‐influenza drug‐related psychiatric adverse events
Anti–influenza drugs, while essential, have been increasingly associated with psychiatric adverse events (pAEs). Our study systematically investigated these pAEs by utilizing large pharmacovigilance databases and animal models, thereby revealing key clinical features and underlying neural mechanisms.
Anqi Lin+9 more
wiley +1 more source
Gaucher disease and malignancy: a model for cancer pathogenesis in an inborn error of metabolism. [PDF]
Mistry PK+3 more
europepmc +1 more source
Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans [PDF]
Chike Bellarmine Item+8 more
openalex +1 more source
ABSTRACT Objective Assessment of olfactory function with psychophysical testing requires cognitive demand to correctly pair test odors with remembered scents. Individuals suffering from long‐Corona Virus Disease 2019 (long‐COVID‐19) may develop a decline in neurocognitive performance, which may be concurrent with persistent olfactory dysfunction (OD ...
Jeremy P. Tervo+12 more
wiley +1 more source