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diagnosis 21hydroxylasedeficiency amyotrophic endocrinology genetics hematology hemeonc hemophagocytic hlh lateral lymphohistiocytosis neurology pediatrics peds sclerosis
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
• This is also ... Signs/Symptoms/Complications ... vomiting • Late (shock ... #21HydroxylaseDeficiency #21OHD ... #pathophysiology
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... fasciculations Common Symptoms ... diagnosis: months - Criteria ... : El Escorial criteria ... neurology #diagnosis #management
Hemophagocytic Lymphohistiocytosis (HLH) High mortality without prompt recognition and management. HLH is a critical diagnostic consideration in
• In all patients ... Presentation • Common Signs ... and Symptoms: ... Pathophysiology ... Diagnostic Criteria
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