17 Alpha-Hydroxylase Deficiency (17OHD ... This condition leads to a range of symptoms, including hypertension (high blood pressure), hypokalemia (low potassium levels), sexual infantilism ...

Revolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and protect maternal and fetal ...