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(Muscle cramps or tetany)
6,806 results
  • Myopathies Related to Glycogen Metabolism Disorders. [Review]
  • NNeurotherapeutics 2018 Nov 05
  • Tarnopolsky MA
  • Most of the glycogen metabolism disorders that affect skeletal muscle involve enzymes in glycogenolysis (myophosphorylase (PYGM), glycogen debranching enzyme (AGL), phosphorylase b kinase (PHKB)) and...
  • Hypoparathyroidism and the Kidney. [Review]
  • EMEndocrinol Metab Clin North Am 2018; 47(4):839-853
  • Peacock M
  • Hypocalcemia and hyperphosphatemia are the pathognomonic biochemical features of hypoparathyroidism, and result directly from lack of parathyroid hormone (PTH) action on the kidney. In the absence of...
  • GeneReviews® [BOOK]
  • BOOKUniversity of Washington, Seattle: Seattle (WA)
  • Adam MP, Ardinger HH, … Amemiya AGoldstein JL, Rehder C, … Bali DS
  • Phosphorylase kinase (PhK) deficiency causing glycogen storage disease type IX (GSD IX) results from deficiency of the enzyme phosphorylase b kinase, which has a major regulatory role in the breakdow...
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