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Kidney Disease and Electrolyte Disturbances

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Inherited Metabolic Diseases

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Key References

  • Nyhan WL, Barshop BA, Ozand PT (2005) Atlas of metabolic diseases, 2nd edn. Hodder-Arnold, London

    Google Scholar 

  • Kaufman JM, Greene ML, Seegmiller JE (1968) Urine uric acid to creatinine ratio — a screening test for inherited disorders of purine metabolism. J Pediatr 73:583–592

    Article  PubMed  CAS  Google Scholar 

  • Wilcox WD (1968) Abnormal plasma uric acid levels in children. J Pediatr 128:731–741

    Google Scholar 

  • Bartter FC, Pronove P, Gill JR Jr et al (1962) Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis: a new syndrome. Am J Med 33: 811–828

    Article  PubMed  CAS  Google Scholar 

  • Birkenhäger R, Otto E, Schürmann MJ et al (2001) Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 29:310–314

    Article  PubMed  Google Scholar 

  • Schlingmann KP, Konrad M, Jeck N et al (2004) Salt wasting and deafness resulting from mutations in two chloride channels. New Engl J Med 350:1314–1319

    Article  PubMed  CAS  Google Scholar 

  • Gitelman HJ, Graham JB, Welt LG (1966) A new familial disorder characterized by hypokalemia and hypomagnesaemia. Trans Assoc Am Physicians 79:221–235

    PubMed  CAS  Google Scholar 

  • Simon DB, Nelson-Williams C, Bia MJ et al (1996) Gitelman's variant of Barter's syndrome, inherited hypokalaemic alka-losis, is caused by mutations in the thiazide-sensitive Na—Cl cotransporter. Nat Genet 12:24–30

    Article  PubMed  CAS  Google Scholar 

  • Scheinman SJ, Guay-Woodford LM, Thakker RV, Warnock DG (1999) Genetic disorders of renal electrolyte transport. N Engl J Med 340:1177–1187

    Article  PubMed  CAS  Google Scholar 

  • Simon DB, Bindra RS, Mansfield TA (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17:171–178

    Article  PubMed  CAS  Google Scholar 

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Author information

Authors and Affiliations

  1. San Diego School of Medicine, Department of Pediatrics, University of California, 9500 Gilman Drive, La Jolla, CA, 92093, USA

    William L. Nyhan

Authors
  1. William L. Nyhan
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Correspondence to William L. Nyhan .

Editor information

Editors and Affiliations

  1. University Children's Hospital, Ruprecht-Karls-University, Im Neuenheimer Feld 430, Heidelberg, 69120, Germany

    Georg F. Hoffmann

  2. Divisions of Human Genetics and Clinical Genetics, Medical University Innsbruck, Schöpfstr. 41, Innsbruck, 6020, Austria

    Johannes Zschocke (Professor of Human Genetics) (Professor of Human Genetics)

  3. San Diego School of Medicine, Department of Pediatrics, University of California, 9500 Gilman Drive, La Jolla, CA, 92093, USA

    William L. Nyhan

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Nyhan, W.L. (2010). Kidney Disease and Electrolyte Disturbances. In: Hoffmann, G.F., Zschocke, J., Nyhan, W.L. (eds) Inherited Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-74723-9_18

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  • DOI: https://doi.org/10.1007/978-3-540-74723-9_18

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-74722-2

  • Online ISBN: 978-3-540-74723-9

  • eBook Packages: MedicineMedicine (R0)

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