2 results
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