Results 191 to 200 of about 26,055 (351)

Predicting Residual 21‐Hydroxylase Enzymatic Activity in Pediatric and Adult Congenital Adrenal Hyperplasia Patients: Towards Individualized Therapy

open access: yesCPT: Pharmacometrics &Systems Pharmacology, EarlyView.
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]

open access: yesActa Neurol Belg, 2012
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]

open access: diamond, 2001
Allan Chiaratti de Oliveira   +3 more
openalex   +1 more source

Neural mechanisms and clinical features of anti‐influenza drug‐related psychiatric adverse events

open access: yesVIEW, EarlyView.
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]

open access: yesCrit Rev Oncog, 2013
Mistry PK   +3 more
europepmc   +1 more source

Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans [PDF]

open access: bronze, 2001
Chike Bellarmine Item   +8 more
openalex   +1 more source

Interrelatedness of Neurocognitive Domain Functioning Between Unprompted and Prompted Identification Testing With Psychophysical Olfactory Evaluation in a Post‐COVID‐19 Cohort

open access: yesWorld Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
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

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