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Case report 718

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References

  1. Bollerslev J (1989) Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical and hormonal aspects. Endocrine Rev 10:45

    Google Scholar 

  2. Cumming WA, Ohlsson A (1985) Intracranial calcification with osteopetrosis caused by carbonic anhydrase II deficiency. Radiology 157:325

    Google Scholar 

  3. Jagadha V, Halliday WC, Becker LE, Hinton D (1988) The association of infantile osteopetrosis and neuronal storage disease in two brothers. Acta Neuropathol 75:233

    Google Scholar 

  4. Ohlsson A, Cumming WA, Paul A, Sly WS (1986) Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. Pediatrics 77:371

    Google Scholar 

  5. Resnick D, Niwayama G (1988) Diagnosis of bone and joint disorders, 2nd edn. WB Saunders, Philadelphia, p 3481

    Google Scholar 

  6. Sly WS, Lang R, Avioli L, Haddad J, Lubowitz H, McAllister W (1972) Recessive osteopetrosis: new clinical phenotype. Am J Hum Genet 24 (Suppl):34a (abstract)

  7. Sly WS, Hewett-Emmett D, Whyte MP, Yu Y-SL, Tashian RE (1983) Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. Proc Natl Acad Sci USA 80:2752

    Google Scholar 

  8. Whyte MP (1990) Primer on the metabolic bone diseases and disorders of mineral metabolism, 1st edn. American Society for Bone and Mineral Research, Kelseyville, p 215

    Google Scholar 

  9. Whyte MP, Hamm LL, Sly WS (1988) Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase II deficiency). J Bone Min Res 3:385

    Google Scholar 

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Authors and Affiliations

  1. Department of Radiology, University of California, San Francisco, California, USA

    Richard Eddy M.D., Mariela Resendes M.D. & Harry Genant M.D.

Authors
  1. Richard Eddy M.D.
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  2. Mariela Resendes M.D.
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  3. Harry Genant M.D.
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Eddy, R., Resendes, M. & Genant, H. Case report 718. Skeletal Radiol. 21, 135–136 (1992). https://doi.org/10.1007/BF00241843

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