The Journal of Pediatrics
Volume 132, Issue 5 , Pages 764-765 , May 1998

Making a “dent” in hereditary hypercalciuric nephrolithiasis

References 

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  2. Melnick RA, Henneman PH. Clinical and laboratory studies of 207 consecutive patients in a kidney stone clinic. N Engl J Med. 1958;259:370–374
  3. Stapleton FB, McKay CP, Noe HN. Urolithiasis in children: the role of hypercalciuria. Pediatr Ann. 1987;16:980–992
  4. Pak CYC. Physiological basis for absorptive and renal hypercalciuria. Am J Physiol. 1979;237:F415–F423
  5. Frymoyer PA, Scheinman SJ, Dunham PB, Jones DB, Hueber P, Schroeder ET. X-linked recessive nephrolithiasis with renal failure. N Engl J Med. 1991;325:681–686
  6. Lloyd SE, Pearce SHS, Fisher JE, Steinmeyer K, Schwappach B, Scheinman SJ, et al.  A common molecular basis for three inherited molecular kidney stone diseases. Nature. 1996;379:445–449
  7. Schurman SJ, Norden AGW, Scheinman SJ. X-linked recessive nephrolithiasis: presentation and diagnosis in children. J Pediatr. 1998;132:859–862
  8. Lloyd SE, Günther W, Pearce SHS, Thomson A, Bianchi ML, Bosio M, et al.  Characterization of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stone) disorders. Hum Mol Genet. 1997;6:1233–1239
  9. Wrong OM, Norden AGW, Feest TG. Dent's disease: a familial proximal renal tubular syndrome with low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, metabolic bone disease, progressive renal failure and a marked male predominance. Q J Med. 1994;87:473–493
  10. Igarashi T, Hayakawa H, Shiraga H, Kawato H, Yan K, Kawaguchi H, et al.  Hypercalciuria and nephrocalcinosis in patients with idiopathic low molecular weight proteinuria in Japan. Nephron. 1995;69:242–247
  11. Bolino A, Devoto M, Enia G, Zoccali C, Weissenbach J, Romeo G. Genetic mapping in the Xp11.2 region of a new form of x-linked hypophosphatemic rickets. Eur J Hum Genet. 1993;1:269–279
  12. Hebert SC. Crystal clear chloride channels. Nature. 1996;379:398–399
  13. Reinhart SC, Norden AGW, Lapsley M, Thakker RV, Pang J, Moses AM, et al.  Characterization of carrier females and affected males with X-linked recessive nephrolithiasis. J Am Soc Nephrol. 1995;5:1451–1461

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PII: S0022-3476(98)70300-2

The Journal of Pediatrics
Volume 132, Issue 5 , Pages 764-765 , May 1998