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21hydroxylasedeficiency 21ohd calcifications cardiology cardiomyopathy diagnosis endocrinology management pathophysiology pediatrics peripartum treatment xray
Plain radiography of the abdomen revealed calcification of both adrenal glands. A homozygous mutation in LIPA
deficiency, or Wolman ... and gut, which causes ... #clincial #peds ... #infant #NEJM # ... Wolmans #radiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... vomiting • Late (shock ... pathophysiology #genetics ... endocrinology #peds
Peripartum Cardiomyopathy - Summary 1. Definition • Towards the end of pregnancy to 5 months postpartum
exclude other causes ... Genetic predisposition ... Clinical • Under-recognized ... Pts: cardiogenic shock ... teratogenic GDMT meds
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