- A study on hypophosphatemic vitamin D resistant rickets in a family
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Chung DY, Byon JN, Suh CJ, Won JJ
- KMID: 2463016
- J Korean Radiol Soc.
- 1984 Sep;20(3):582-590.
- doi: 10.3348/jkrs.1984.20.3.582
Hypophosphatemic vitamin D resistant rickets is a form of rickets characterized by typical structural deformities and roentgenographic and metabolic changes. It has a strong familial tendency and appear to be... -
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- Clinical Study of Hypophosphatemic Rickets
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Choi SM, Kim DH, Suh CS
- KMID: 1682905
- J Korean Pediatr Soc.
- 1989 Aug;32(8):1057-1063.
No abstract available. -
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- Hypophosphatemic Rickets
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Kim KM, Ha SH, Jin DK, Ko KW
- KMID: 1683295
- J Korean Pediatr Soc.
- 1990 Apr;33(4):437-447.
No abstract available. -
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- A Case of Epidermal Nevus Syndrome associated with Developmental Delay and Hypophosphatemic Rickets
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Kim YJ, Kim YY, Lee WB
- KMID: 1829648
- J Korean Pediatr Soc.
- 1999 Dec;42(12):1741-1745.
Epidermal nevus syndrome is a rare disease which includes disorders of bone, central nervous system, eye, kidney, vasculature, body symmetry, skin, and rarely, hypophosphatemic rickets which have been observed in... -
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- A Case of Hypophosphatemic Rickets associated with Epidermal Nevus Syndrome
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Lee YJ, Lee SJ, Kang JH, Park HJ, Shin CH, Cheong HI
- KMID: 1627753
- J Korean Soc Pediatr Nephrol.
- 2005 Oct;9(2):263-268.
Epidermal nevus syndrome is a rare disease consisting of epidermal nevus and multisystem pathologic conditions associated with anomalies in the central nervous system, bone, eye, heart, vasculature and genito-urinary system.... -
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- Oncogenous Rickets: Report of Two Cases
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Lee DY, Kang HJ, Won CH
- KMID: 2445869
- J Korean Orthop Assoc.
- 1986 Jun;21(3):507-514.
- doi: 10.4055/jkoa.1986.21.3.507
Oncogenous or tumor-induced rickets is recognized as Vitamin D-resistant hypophosphatemic rickets that heals after excision of a coexisting tumor in either bone or soft tissue. Its pathogenesis is not clarified,... -
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- Hypophosphatemic Rickets
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Park HW, Lee JH, Choi Y
- KMID: 1517056
- Korean J Pediatr.
- 2004 Dec;47(Suppl 4):S828-S834.
No abstract available. -
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- A Novel PHEX Gene Mutation in a Patient with Sporadic Hypophosphatemic Rickets
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Kang YE, Hong JH, Kim J, Joung KH, Kim HJ, Ku BJ, Kim KS
- KMID: 2169427
- Endocrinol Metab.
- 2014 Jun;29(2):195-201.
- doi: 10.3803/EnM.2014.29.2.195
Phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) is a common cause of X-linked hypophosphatemic (XLH) rickets. Diverse PHEX gene mutations have been reported; however, gene mutations... -
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- A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature
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Cheon CK, Lee HS, Kim SY, Kwak MJ, Kim GH, Yoo HW
- KMID: 1702662
- Ann Pediatr Endocrinol Metab.
- 2014 Mar;19(1):36-41.
- doi: 10.6065/apem.2014.19.1.36
X-linked hypophosphatemia (XLH) is the most common form of familial hypophosphatemic rickets and it is caused by loss-of-function mutations in the PHEX gene. Recently, a wide variety of PHEX gene... -
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- Supramalleolar Stepcut Osteotomy for Tibial Deformity in Vitamin D - Resistant Rickets
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Lee SH, Kim CW
- KMID: 2446515
- J Korean Orthop Assoc.
- 1984 Dec;19(6):1103-1108.
- doi: 10.4055/jkoa.1984.19.6.1103
In treatment of Vitamin D-resistant rickets, the authors supplemented supramalleolar stepcut osteotomy for complex deformity of tibia consisted of varus, anterior bowing and intemal torsional supramalleolar level which accompanied severe... -
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- A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
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Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK
- KMID: 2432276
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):229-234.
- doi: 10.6065/apem.2018.23.4.229
X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate... -
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- Hypophosphatemic Rickets
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Ko JS, Huh J, Ha IS, Cheong HI, Choi Y
- KMID: 2208540
- J Korean Pediatr Soc.
- 1994 Mar;37(3):376-382.
The clinical data of 27 patiets with hypophosphatemic rickets treated with phosphate and 1alpha-hydroxyvitamin D were analysed retrospectively. The median age at diagnosis was 4 years, and the main clinical... -
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- Clinical Study of Hypophosphatemic Rickets
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Lee CJ, Cho HY, Kang JH, Shin CH, Ha IS, Cheong HI, Yang SW, Choi Y
- KMID: 2098814
- J Korean Soc Pediatr Nephrol.
- 2004 Oct;8(2):195-204.
PURPOSE: Hypophosphatemic rickets is a hereditary disease, characterized by hypophosphatemia due to renal phosphate wasting, impaired renal production of 1,25-dihydroxyvitamin D3, rachitic bone deformities and impaired growth. The purpose of... -
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- A Case of Late-Onset Hypophosphatemic Ricket
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Shin GM, Yi SD, Park YC
- KMID: 1957565
- J Korean Neurol Assoc.
- 1987 Dec;5(2):249-254.
Late onset hypophosphatemic ricket is a nonfamilial sporadic disease characterized by clinical manitestations of ricket and proximal muscle weakness in the adolescence or adulthood without previous history of ricket. The... -
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- Orthopedic Treatments for Genetic and Metabolic Bone Diseases
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Cho TJ, Kim MB, Choi IH, Chung CY, Yoo WJ, Lee CK
- KMID: 2399039
- J Korean Orthop Assoc.
- 2003 Aug;38(4):378-383.
PURPOSE: The purpose of this study was to investigate the distribution of diseases and the orthopedic procedures performed in patients with genetic and metabolic bone diseases. MATERIALS AND METHODS: One... -
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- A Case of Sporadic Nonfamilial Hypophosphatemic Osteomalacia
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Kang JG, Kim DS, Choi CB, Kim TJ, Kim JP, Lee CB, Park YS, Ahn YH, Kim TW, Bae SC, Park CG
- KMID: 2200009
- J Korean Soc Endocrinol.
- 2002 Aug;17(4):610-616.
Acquired hypophosphatemic rickets, or osteomalacia, requires the recognition of the typical clinical and radiological features of osteomalacia in association with hypophosphatemia, which is caused by the decrease in intestinal absorption... -
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- A Child with Familial Hypophosphatemic Ricket: A case report
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Choi ES, Kang SY, Lee YS, Choi JH
- KMID: 2323024
- J Korean Acad Rehabil Med.
- 1997 Jun;21(3):623.
Familial hypophosphatemic ricket (Vitamin D-resistant ricket), first described by Albright in 1937, has been known to be transmitted as an X-linked dominant trait in most families. Children with this disease... -
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- A Case of Metaphyseal Chondrodysplasia
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Lee CK, Suk SI, Choi JS
- KMID: 2456412
- J Korean Orthop Assoc.
- 1980 Dec;15(4):851-856.
- doi: 10.4055/jkoa.1980.15.4.851
Metaphyseal Chondrodysplasia is a disease characterized by metaphyseal ossification leading to shortening of stature. The extremities, especially lower, and mainly affected, resulting in a disproportionate drarfing which spares the trunk.... -
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