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21hydroxylasedeficiency 21ohd diagnosis endocrinology hematology hemeonc hemophagocytic hlh lymphohistiocytosis management pediatrics
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... deficiencies present in infants ... Signs/Symptoms/Complications ... #genetics #endocrinology ... #peds #pediatrics
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
consideration in febrile ... hyperinflammatory syndrome caused ... Familial) HLH: - Genetic ... Onset: Usually in infancy ... Pathophysiology
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