Renal Tubular Acidosis, Osteopetrosis, and Cerebral Calcification: A Rare Syndrome Caused by Carbonic Anhydrase II Deficiency

Samankaltaisia teoksia

• Renal tubular acidosis, osteopetrosis, and cerebral calcification: A rare syndrome caused by carbonic anhydrase II deficiency
  Tekijä: B A Laway, et al.
  Julkaistu: (2017-01-01)
• Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.
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  Julkaistu: (1983)
• Correction of renal tubular acidosis in carbonic anhydrase II-deficient mice with gene therapy.
  Tekijä: Lai, L W, et al.
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• Hypokalemic quadriparesis and rhabdomyolysis as a rare presentation of distal renal tubular acidosis
  Tekijä: Ahmad Bhat, Manzoor, et al.
  Julkaistu: (2014)
• Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis.
  Tekijä: Kondo, T, et al.
  Julkaistu: (1978)