메뉴 건너뛰기




Volumn 33, Issue 3, 2013, Pages 300-309

Genetic disorders of potassium homeostasis

Author keywords

Aldosteronism; Bartter; Genetic disorders of potassium; Gitelman; Liddle

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 2; AMILORIDE; EPLERENONE; GLUCOCORTICOID; POTASSIUM; SODIUM CHLORIDE COTRANSPORTER; SPIRONOLACTONE; THIAZIDE DIURETIC AGENT; TRIAMTERENE;

EID: 84881587344     PISSN: 02709295     EISSN: 15584488     Source Type: Journal    
DOI: 10.1016/j.semnephrol.2013.04.010     Document Type: Article
Times cited : (19)

References (61)
  • 1
    • 0028154726 scopus 로고
    • Brief report: Liddle's syndrome revisited--a disorder of sodium reabsorption in the distal tubule
    • Botero-Velez M., Curtis J.J., Warnock D.G. Brief report: Liddle's syndrome revisited--a disorder of sodium reabsorption in the distal tubule. N Engl J Med 1994, 330:178-181.
    • (1994) N Engl J Med , vol.330 , pp. 178-181
    • Botero-Velez, M.1    Curtis, J.J.2    Warnock, D.G.3
  • 2
    • 0029591506 scopus 로고
    • + channel
    • + channel. Cell 1995, 83:969-978.
    • (1995) Cell , vol.83 , pp. 969-978
    • Snyder, P.M.1
  • 3
    • 33644543413 scopus 로고    scopus 로고
    • + channel surface expression and proteolytic cleavage
    • + channel surface expression and proteolytic cleavage. Proc Natl Acad Sci U S A 2006, 103:2805-2808.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 2805-2808
    • Knight, K.K.1
  • 4
    • 20444432260 scopus 로고    scopus 로고
    • 2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia
    • 2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia. J Clin Invest 2005, 115:1651-1658.
    • (2005) J Clin Invest , vol.115 , pp. 1651-1658
    • Nijenhuis, T.1
  • 5
    • 0031594450 scopus 로고    scopus 로고
    • Liddle syndrome: an autosomal dominant form of human hypertension
    • Warnock D.G. Liddle syndrome: an autosomal dominant form of human hypertension. Kidney Int 1998, 53:18-24.
    • (1998) Kidney Int , vol.53 , pp. 18-24
    • Warnock, D.G.1
  • 6
    • 0034874065 scopus 로고    scopus 로고
    • A mineralocorticoid receptor mutation causing human hypertension
    • Geller D.S. A mineralocorticoid receptor mutation causing human hypertension. Curr Opin Nephrol Hypertens 2001, 10:661-665.
    • (2001) Curr Opin Nephrol Hypertens , vol.10 , pp. 661-665
    • Geller, D.S.1
  • 8
    • 0014029230 scopus 로고
    • Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone
    • Sutherland D.J., Ruse J.L., Laidlaw J.C. Hypertension, increased aldosterone secretion and low plasma renin activity relieved by dexamethasone. Can Med Assoc J 1966, 95:1109-1119.
    • (1966) Can Med Assoc J , vol.95 , pp. 1109-1119
    • Sutherland, D.J.1    Ruse, J.L.2    Laidlaw, J.C.3
  • 9
    • 0026580019 scopus 로고
    • A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension
    • Lifton R.P., et al. A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. Nature 1992, 355:262-265.
    • (1992) Nature , vol.355 , pp. 262-265
    • Lifton, R.P.1
  • 10
    • 0842308015 scopus 로고    scopus 로고
    • Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism
    • Fallo F., et al. Coexistence of different phenotypes in a family with glucocorticoid-remediable aldosteronism. J Hum Hypertens 2004, 18:47-51.
    • (2004) J Hum Hypertens , vol.18 , pp. 47-51
    • Fallo, F.1
  • 11
    • 0036312706 scopus 로고    scopus 로고
    • Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigree
    • Mulatero P., et al. Glucocorticoid remediable aldosteronism: low morbidity and mortality in a four-generation italian pedigree. J Clin Endocrinol Metab 2002, 87:3187-3191.
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 3187-3191
    • Mulatero, P.1
  • 12
    • 0029042995 scopus 로고
    • Glucocorticoid-suppressible hyperaldosteronism: effects of crossover site and parental origin of chimaeric gene on phenotypic expression
    • Jamieson A., et al. Glucocorticoid-suppressible hyperaldosteronism: effects of crossover site and parental origin of chimaeric gene on phenotypic expression. Clin Sci (Lond) 1995, 88:563-570.
    • (1995) Clin Sci (Lond) , vol.88 , pp. 563-570
    • Jamieson, A.1
  • 13
    • 0034752250 scopus 로고    scopus 로고
    • Genetic study of patients with dexamethasone-suppressible aldosteronism without the chimeric CYP11B1/CYP11B2 gene
    • Fardella C.E., et al. Genetic study of patients with dexamethasone-suppressible aldosteronism without the chimeric CYP11B1/CYP11B2 gene. J Clin Endocrinol Metab 2001, 86:4805-4807.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 4805-4807
    • Fardella, C.E.1
  • 14
    • 34047131750 scopus 로고    scopus 로고
    • A German family with glucocorticoid-remediable aldosteronism
    • Vonend O., et al. A German family with glucocorticoid-remediable aldosteronism. Nephrol Dial Transplant 2007, 22:1123-1130.
    • (2007) Nephrol Dial Transplant , vol.22 , pp. 1123-1130
    • Vonend, O.1
  • 15
    • 49249091443 scopus 로고    scopus 로고
    • A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism
    • Geller D.S., et al. A novel form of human mendelian hypertension featuring nonglucocorticoid-remediable aldosteronism. J Clin Endocrinol Metab 2008, 93:3117-3123.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 3117-3123
    • Geller, D.S.1
  • 16
    • 33750697604 scopus 로고    scopus 로고
    • Apparent mineralocorticoid excess: report of six new cases and extensive personal experience
    • Morineau G., et al. Apparent mineralocorticoid excess: report of six new cases and extensive personal experience. J Am Soc Nephrol 2006, 17:3176-3184.
    • (2006) J Am Soc Nephrol , vol.17 , pp. 3176-3184
    • Morineau, G.1
  • 17
    • 0018598286 scopus 로고
    • A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol
    • Ulick S., et al. A syndrome of apparent mineralocorticoid excess associated with defects in the peripheral metabolism of cortisol. J Clin Endocrinol Metab 1979, 49:757-764.
    • (1979) J Clin Endocrinol Metab , vol.49 , pp. 757-764
    • Ulick, S.1
  • 18
    • 0025989937 scopus 로고
    • Licorice-induced hypermineralocorticoidism
    • Farese R.V., et al. Licorice-induced hypermineralocorticoidism. N Engl J Med 1991, 325:1223-1227.
    • (1991) N Engl J Med , vol.325 , pp. 1223-1227
    • Farese, R.V.1
  • 19
    • 17944373014 scopus 로고    scopus 로고
    • Human hypertension caused by mutations in WNK kinases
    • Wilson F.H., et al. Human hypertension caused by mutations in WNK kinases. Science 2001, 293:1107-1112.
    • (2001) Science , vol.293 , pp. 1107-1112
    • Wilson, F.H.1
  • 20
    • 0032506549 scopus 로고    scopus 로고
    • Cure of apparent mineralocorticoid excess by kidney transplantation
    • 1998;339:1787-8.
    • Palermo M, Cossu M, Shackleton CH. Cure of apparent mineralocorticoid excess by kidney transplantation. N Engl J Med.1998;339:1787-8.
    • N Engl J Med
    • Palermo, M.1    Cossu, M.2    Shackleton, C.H.3
  • 21
    • 50849151835 scopus 로고
    • Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome
    • Bartter F.C., et al. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962, 33:811-828.
    • (1962) Am J Med , vol.33 , pp. 811-828
    • Bartter, F.C.1
  • 22
    • 0035189356 scopus 로고    scopus 로고
    • Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
    • Birkenhager R., et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet 2001, 29:310-314.
    • (2001) Nat Genet , vol.29 , pp. 310-314
    • Birkenhager, R.1
  • 23
    • 1642366722 scopus 로고    scopus 로고
    • Salt wasting and deafness resulting from mutations in two chloride channels
    • Schlingmann K.P., et al. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med 2004, 350:1314-1319.
    • (2004) N Engl J Med , vol.350 , pp. 1314-1319
    • Schlingmann, K.P.1
  • 24
    • 16944366243 scopus 로고    scopus 로고
    • Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
    • Simon D.B., et al. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 1997, 17:171-178.
    • (1997) Nat Genet , vol.17 , pp. 171-178
    • Simon, D.B.1
  • 25
    • 0030032699 scopus 로고    scopus 로고
    • Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
    • Simon D.B., et al. Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 1996, 13:183-188.
    • (1996) Nat Genet , vol.13 , pp. 183-188
    • Simon, D.B.1
  • 26
    • 0029794875 scopus 로고    scopus 로고
    • + channel, ROMK
    • + channel, ROMK. Nat Genet 1996, 14:152-156.
    • (1996) Nat Genet , vol.14 , pp. 152-156
    • Simon, D.B.1
  • 27
    • 0036707879 scopus 로고    scopus 로고
    • Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome
    • Vargas-Poussou R., et al. Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 2002, 13:2259-2266.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 2259-2266
    • Vargas-Poussou, R.1
  • 28
    • 0037206034 scopus 로고    scopus 로고
    • Association between activating mutations of calcium-sensing receptor and Bartter's syndrome
    • Watanabe S., et al. Association between activating mutations of calcium-sensing receptor and Bartter's syndrome. Lancet 2002, 360:692-694.
    • (2002) Lancet , vol.360 , pp. 692-694
    • Watanabe, S.1
  • 29
    • 0037082531 scopus 로고    scopus 로고
    • Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies
    • Peters M., et al. Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med 2002, 112:183-190.
    • (2002) Am J Med , vol.112 , pp. 183-190
    • Peters, M.1
  • 30
    • 0035408815 scopus 로고    scopus 로고
    • Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness
    • Jeck N., et al. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. Pediatrics 2001, 108:E5.
    • (2001) Pediatrics , vol.108
    • Jeck, N.1
  • 31
    • 34748885479 scopus 로고    scopus 로고
    • A thiazide test for the diagnosis of renal tubular hypokalemic disorders
    • Colussi G., et al. A thiazide test for the diagnosis of renal tubular hypokalemic disorders. Clin J Am Soc Nephrol 2007, 2:454-460.
    • (2007) Clin J Am Soc Nephrol , vol.2 , pp. 454-460
    • Colussi, G.1
  • 32
    • 0019852360 scopus 로고
    • Renal handling of water and sodium in infancy and childhood: a study using clearance methods during hypotonic saline diuresis
    • Rodriguez-Soriano J., et al. Renal handling of water and sodium in infancy and childhood: a study using clearance methods during hypotonic saline diuresis. Kidney Int 1981, 20:700-704.
    • (1981) Kidney Int , vol.20 , pp. 700-704
    • Rodriguez-Soriano, J.1
  • 33
    • 34748855516 scopus 로고    scopus 로고
    • Can renal tubular hypokalemic disorders be accurately diagnosed on the basis of the diuretic response to thiazide?
    • Sassen M.C., Jeck N., Klaus G. Can renal tubular hypokalemic disorders be accurately diagnosed on the basis of the diuretic response to thiazide?. Nat Clin Pract Nephrol 2007, 3:528-529.
    • (2007) Nat Clin Pract Nephrol , vol.3 , pp. 528-529
    • Sassen, M.C.1    Jeck, N.2    Klaus, G.3
  • 34
    • 0029803436 scopus 로고    scopus 로고
    • Neonatal Bartter syndrome--use of indomethacin in the newborn period and prevention of growth failure
    • Mackie F.E., et al. Neonatal Bartter syndrome--use of indomethacin in the newborn period and prevention of growth failure. Pediatr Nephrol 1996, 10:756-758.
    • (1996) Pediatr Nephrol , vol.10 , pp. 756-758
    • Mackie, F.E.1
  • 35
    • 0033667558 scopus 로고    scopus 로고
    • Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype
    • Jeck N., et al. Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype. Pediatr Res 2000, 48:754-758.
    • (2000) Pediatr Res , vol.48 , pp. 754-758
    • Jeck, N.1
  • 36
    • 9044235777 scopus 로고    scopus 로고
    • Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter
    • Simon D.B., et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 1996, 12:24-30.
    • (1996) Nat Genet , vol.12 , pp. 24-30
    • Simon, D.B.1
  • 37
    • 0037213896 scopus 로고    scopus 로고
    • A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes
    • Zelikovic I., et al. A novel mutation in the chloride channel gene, CLCNKB, as a cause of Gitelman and Bartter syndromes. Kidney Int 2003, 63:24-32.
    • (2003) Kidney Int , vol.63 , pp. 24-32
    • Zelikovic, I.1
  • 38
    • 0035136314 scopus 로고    scopus 로고
    • Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life
    • Cruz D.N., et al. Gitelman's syndrome revisited: an evaluation of symptoms and health-related quality of life. Kidney Int 2001, 59:710-717.
    • (2001) Kidney Int , vol.59 , pp. 710-717
    • Cruz, D.N.1
  • 39
    • 0028356071 scopus 로고
    • Correction of hypokalemia with antialdosterone therapy in Gitelman's syndrome
    • Colussi G., et al. Correction of hypokalemia with antialdosterone therapy in Gitelman's syndrome. Am J Nephrol 1994, 14:127-135.
    • (1994) Am J Nephrol , vol.14 , pp. 127-135
    • Colussi, G.1
  • 40
    • 0001601125 scopus 로고
    • A salt wasting syndrome in infancy
    • Cheek D.B., Perry J.W. A salt wasting syndrome in infancy. Arch Dis Child 1958, 33:252-256.
    • (1958) Arch Dis Child , vol.33 , pp. 252-256
    • Cheek, D.B.1    Perry, J.W.2
  • 41
    • 0033565228 scopus 로고    scopus 로고
    • Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism
    • Kerem E., et al. Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med 1999, 341:156-162.
    • (1999) N Engl J Med , vol.341 , pp. 156-162
    • Kerem, E.1
  • 42
    • 44449157131 scopus 로고    scopus 로고
    • Pseudohypoaldosteronisms, report on a 10-patient series
    • Belot A., et al. Pseudohypoaldosteronisms, report on a 10-patient series. Nephrol Dial Transplant 2008, 23:1636-1641.
    • (2008) Nephrol Dial Transplant , vol.23 , pp. 1636-1641
    • Belot, A.1
  • 43
    • 0036657049 scopus 로고    scopus 로고
    • Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism
    • Urbatsch A., Paller A.S. Pustular miliaria rubra: a specific cutaneous finding of type I pseudohypoaldosteronism. Pediatr Dermatol 2002, 19:317-319.
    • (2002) Pediatr Dermatol , vol.19 , pp. 317-319
    • Urbatsch, A.1    Paller, A.S.2
  • 44
    • 0036707894 scopus 로고    scopus 로고
    • Disturbances of Na/K balance: pseudohypoaldosteronism revisited
    • Bonny O., Rossier B.C. Disturbances of Na/K balance: pseudohypoaldosteronism revisited. J Am Soc Nephrol 2002, 13:2399-2414.
    • (2002) J Am Soc Nephrol , vol.13 , pp. 2399-2414
    • Bonny, O.1    Rossier, B.C.2
  • 45
    • 13344295074 scopus 로고    scopus 로고
    • Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1
    • Chang S.S., et al. Mutations in subunits of the epithelial sodium channel cause salt wasting with hyperkalaemic acidosis, pseudohypoaldosteronism type 1. Nat Genet 1996, 12:248-253.
    • (1996) Nat Genet , vol.12 , pp. 248-253
    • Chang, S.S.1
  • 46
    • 79959270537 scopus 로고    scopus 로고
    • Critical points in the management of pseudohypoaldosteronism type 1
    • Guran T., et al. Critical points in the management of pseudohypoaldosteronism type 1. J Clin Res Pediatr Endocrinol 2011, 3:98-100.
    • (2011) J Clin Res Pediatr Endocrinol , vol.3 , pp. 98-100
    • Guran, T.1
  • 47
    • 33646357245 scopus 로고    scopus 로고
    • Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults
    • Geller D.S., et al. Autosomal dominant pseudohypoaldosteronism type 1: mechanisms, evidence for neonatal lethality, and phenotypic expression in adults. J Am Soc Nephrol 2006, 17:1429-1436.
    • (2006) J Am Soc Nephrol , vol.17 , pp. 1429-1436
    • Geller, D.S.1
  • 48
    • 33845929578 scopus 로고    scopus 로고
    • Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism
    • Pujo L., et al. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism. Hum Mutat 2007, 28:33-40.
    • (2007) Hum Mutat , vol.28 , pp. 33-40
    • Pujo, L.1
  • 49
    • 0035226112 scopus 로고    scopus 로고
    • Familial hyperkalemic hypertension (Gordon syndrome): evidence for phenotypic variability in a study of 7 families
    • Disse-Nicodeme S., et al. Familial hyperkalemic hypertension (Gordon syndrome): evidence for phenotypic variability in a study of 7 families. Adv Nephrol Necker Hosp 2001, 31:55-68.
    • (2001) Adv Nephrol Necker Hosp , vol.31 , pp. 55-68
    • Disse-Nicodeme, S.1
  • 50
    • 0023039605 scopus 로고
    • Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate
    • Gordon R.D. Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate. Hypertension 1986, 8:93-102.
    • (1986) Hypertension , vol.8 , pp. 93-102
    • Gordon, R.D.1
  • 51
    • 75949143620 scopus 로고
    • Hypertension and hyperpotassaemia without renal disease in a young male
    • Paver W.K., Pauline G.J. Hypertension and hyperpotassaemia without renal disease in a young male. Med J Aust 1964, 2:305-306.
    • (1964) Med J Aust , vol.2 , pp. 305-306
    • Paver, W.K.1    Pauline, G.J.2
  • 52
    • 0024256151 scopus 로고
    • A new Australian kindred with the syndrome of hypertension and hyperkalaemia has dysregulation of atrial natriuretic factor
    • Gordon R.D., et al. A new Australian kindred with the syndrome of hypertension and hyperkalaemia has dysregulation of atrial natriuretic factor. J Hypertens Suppl 1988, 6:S323-S326.
    • (1988) J Hypertens Suppl , vol.6
    • Gordon, R.D.1
  • 53
    • 0014870575 scopus 로고
    • Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction
    • Gordon R.D., et al. Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction. Australas Ann Med 1970, 19:287-294.
    • (1970) Australas Ann Med , vol.19 , pp. 287-294
    • Gordon, R.D.1
  • 54
    • 0019480065 scopus 로고
    • Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption
    • Schambelan M., Sebastian A., Rector F.C. Mineralocorticoid-resistant renal hyperkalemia without salt wasting (type II pseudohypoaldosteronism): role of increased renal chloride reabsorption. Kidney Int 1981, 19:716-727.
    • (1981) Kidney Int , vol.19 , pp. 716-727
    • Schambelan, M.1    Sebastian, A.2    Rector, F.C.3
  • 55
    • 0037382807 scopus 로고    scopus 로고
    • WNK kinases regulate thiazide-sensitive Na-Cl cotransport
    • Yang C.L., et al. WNK kinases regulate thiazide-sensitive Na-Cl cotransport. J Clin Invest 2003, 111:1039-1045.
    • (2003) J Clin Invest , vol.111 , pp. 1039-1045
    • Yang, C.L.1
  • 56
    • 84856431125 scopus 로고    scopus 로고
    • Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
    • Boyden L.M., et al. Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature 2012, 482:98-102.
    • (2012) Nature , vol.482 , pp. 98-102
    • Boyden, L.M.1
  • 57
    • 84859425383 scopus 로고    scopus 로고
    • KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron
    • Louis-Dit-Picard H., et al. KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. Nat Genet 2012, 44:456-460.
    • (2012) Nat Genet , vol.44 , pp. 456-460
    • Louis-Dit-Picard, H.1
  • 58
    • 2342574953 scopus 로고    scopus 로고
    • Aldosterone synthase deficiency and related disorders
    • White P.C. Aldosterone synthase deficiency and related disorders. Mol Cell Endocrinol 2004, 217:81-87.
    • (2004) Mol Cell Endocrinol , vol.217 , pp. 81-87
    • White, P.C.1
  • 59
    • 0027218610 scopus 로고
    • Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients
    • Mitsuuchi Y., et al. Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. Biochem Biophys Res Commun 1993, 190:864-869.
    • (1993) Biochem Biophys Res Commun , vol.190 , pp. 864-869
    • Mitsuuchi, Y.1
  • 60
    • 0017112177 scopus 로고
    • Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway
    • Ulick S. Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway. J Clin Endocrinol Metab 1976, 43:92-96.
    • (1976) J Clin Endocrinol Metab , vol.43 , pp. 92-96
    • Ulick, S.1
  • 61
    • 8844257307 scopus 로고    scopus 로고
    • Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    • Forest M.G. Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod Update 2004, 10:469-485.
    • (2004) Hum Reprod Update , vol.10 , pp. 469-485
    • Forest, M.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.