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Volumn 58, Issue 2, 2005, Pages 329-333

A clinical and molecular genetic study of hypophosphatemic rickets in children

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATE; VITAMIN D;

EID: 23244455513     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000169983.40758.7B     Document Type: Article
Times cited : (89)

References (30)
  • 1
    • 0025786015 scopus 로고
    • X-linked hypophosphatemia. Genetic and clinical correlates
    • Hanna JD, Niimi K, Chan JC 1991 X-linked hypophosphatemia. Genetic and clinical correlates. Am J Dis Child 145:865-870
    • (1991) Am J Dis Child , vol.145 , pp. 865-870
    • Hanna, J.D.1    Niimi, K.2    Chan, J.C.3
  • 2
    • 0037223396 scopus 로고    scopus 로고
    • Disorders of renal tubular phosphate transport
    • Tenenhouse HS, Murer H 2003 Disorders of renal tubular phosphate transport. J Am Soc Nephrol 14:240-248
    • (2003) J Am Soc Nephrol , vol.14 , pp. 240-248
    • Tenenhouse, H.S.1    Murer, H.2
  • 4
    • 0033996157 scopus 로고    scopus 로고
    • PHEX gene and hypophosphatemia
    • Drezner MK 2000 PHEX gene and hypophosphatemia. Kidney Int 57:9-18
    • (2000) Kidney Int , vol.57 , pp. 9-18
    • Drezner, M.K.1
  • 5
    • 0033863548 scopus 로고    scopus 로고
    • The molecular background to hypophosphatemic rickets
    • Rowe PS 2000 The molecular background to hypophosphatemic rickets. Arch Dis Child 83:192-194
    • (2000) Arch Dis Child , vol.83 , pp. 192-194
    • Rowe, P.S.1
  • 6
    • 0038678168 scopus 로고    scopus 로고
    • FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization
    • Quarles LD 2003 FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization. Am J Physiol Endocrinol Metab 285:E1-E9
    • (2003) Am J Physiol Endocrinol Metab , vol.285
    • Quarles, L.D.1
  • 8
    • 0035932945 scopus 로고    scopus 로고
    • FGF23, hypophosphatemia, and rickets: Has phosphatonin been found?
    • Strewler GJ 2001 FGF23, hypophosphatemia, and rickets: has phosphatonin been found? Proc Natl Acad Sci USA 98:5945-5946
    • (2001) Proc Natl Acad Sci USA , vol.98 , pp. 5945-5946
    • Strewler, G.J.1
  • 10
    • 0036072577 scopus 로고    scopus 로고
    • Molecular pathogenesis of hypophosphatemic rickets
    • Jan de Beur SM, Levine MA 2002 Molecular pathogenesis of hypophosphatemic rickets. J Clin Endocrinol Metab 87:2467-2473
    • (2002) J Clin Endocrinol Metab , vol.87 , pp. 2467-2473
    • Jan De Beur, S.M.1    Levine, M.A.2
  • 11
    • 0013118819 scopus 로고    scopus 로고
    • The autosomal dominant hypophosphatemic rickets RI76Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency
    • Bai X Y, Miao D, Goltzman D, Karaplis AC 2003 The autosomal dominant hypophosphatemic rickets RI76Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency. J Biol Chem 278:9843-9849
    • (2003) J Biol Chem , vol.278 , pp. 9843-9849
    • Bai, X.Y.1    Miao, D.2    Goltzman, D.3    Karaplis, A.C.4
  • 15
    • 0035878581 scopus 로고    scopus 로고
    • Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein
    • Sabbagh Y, Boileau G, DesGroseillers L, Tenenhouse HS 2001 Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein. Hum Mol Genet 10:1539-1546
    • (2001) Hum Mol Genet , vol.10 , pp. 1539-1546
    • Sabbagh, Y.1    Boileau, G.2    Desgroseillers, L.3    Tenenhouse, H.S.4
  • 16
    • 0141844575 scopus 로고    scopus 로고
    • Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX
    • Liu S, Guo R, Simpson LG, Xiao ZS, Burnham CE, Quarles LD 2003 Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX. J Biol Chem 278:37419-37426
    • (2003) J Biol Chem , vol.278 , pp. 37419-37426
    • Liu, S.1    Guo, R.2    Simpson, L.G.3    Xiao, Z.S.4    Burnham, C.E.5    Quarles, L.D.6
  • 19
    • 0026680302 scopus 로고
    • X-linked hypophosphataemia: A homologous phenotype in humans and mice with unusual organ-specific gene dosage
    • Scriver CR, Tenenhouse HS 1992 X-linked hypophosphataemia: a homologous phenotype in humans and mice with unusual organ-specific gene dosage. J Inherit Metab Dis 15:610-624
    • (1992) J Inherit Metab Dis , vol.15 , pp. 610-624
    • Scriver, C.R.1    Tenenhouse, H.S.2
  • 21
    • 0034164441 scopus 로고    scopus 로고
    • Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets
    • Tyynismaa H, Kaitila I, Näntö-Salonen K, Ala-Houhala M, Alitalo T 2000 Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. Hum Mutat 15:383-384
    • (2000) Hum Mutat , vol.15 , pp. 383-384
    • Tyynismaa, H.1    Kaitila, I.2    Näntö-Salonen, K.3    Ala-Houhala, M.4    Alitalo, T.5
  • 24
    • 0025961930 scopus 로고
    • Abnormal renal glucose handling in X-linked hypophosphataemic mice
    • Muhlbauer RC, Fleisch H 1991 Abnormal renal glucose handling in X-linked hypophosphataemic mice. Clin Sci (Lond) 80:71-76
    • (1991) Clin Sci (Lond) , vol.80 , pp. 71-76
    • Muhlbauer, R.C.1    Fleisch, H.2
  • 25
    • 0018151442 scopus 로고
    • Effect of oral glucose ingestion on renal phosphate reabsorption and clearance in vitamin D-resistant rickets
    • Baran DT, Hahn TJ, Avioli LV 1978 Effect of oral glucose ingestion on renal phosphate reabsorption and clearance in vitamin D-resistant rickets. J Clin Endocrinol Metab 47:138-144
    • (1978) J Clin Endocrinol Metab , vol.47 , pp. 138-144
    • Baran, D.T.1    Hahn, T.J.2    Avioli, L.V.3
  • 26
    • 0021319081 scopus 로고
    • Modification in the renal phosphate handling after oral administration of glucose to conscious rats
    • Aubert J, Templier B, Lacour B, Clavel J, Ulmann A 1984 Modification in the renal phosphate handling after oral administration of glucose to conscious rats. Miner Electrolyte Metab 10:98-102
    • (1984) Miner Electrolyte Metab , vol.10 , pp. 98-102
    • Aubert, J.1    Templier, B.2    Lacour, B.3    Clavel, J.4    Ulmann, A.5
  • 29
    • 0037322690 scopus 로고    scopus 로고
    • Prolonged high-dose phosphate treatment: A risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets
    • Makitie O, Kooh SW, Sochett E 2003 Prolonged high-dose phosphate treatment: a risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets. Clin Endocrinol (Oxf) 58:163-168
    • (2003) Clin Endocrinol (Oxf) , vol.58 , pp. 163-168
    • Makitie, O.1    Kooh, S.W.2    Sochett, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.