17 Alpha-Hydroxylase Deficiency (17OHD ... the diverse clinical manifestations of 17OHD and the implications for patient management. For instance, one study identified eight different mutations ...
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ACMG sets new lifelong guidelines for managing phenylalanine hydroxylase deficiencyRevolutionizing care for phenylalanine hydroxylase (PAH) deficiency, ACMG's updated guidelines highlight evidence-based strategies to enhance neurocognitive health and protect maternal and fetal ...
A patient may have pituitary deficiency subsequent to severe head trauma, for example, or precocious puberty due to exposure to exogenous hormones. Cancers of endocrine tissues, which may be due ...
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