- 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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- Cervical Ossification of Posterior Longitudinal Ligament in X-Linked Hypophosphatemic Rickets Revealing Homogeneously Increased Vertebral Bone Density
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Shiba M, Mizuno M, Kuraishi K, Suzuki H
- KMID: 2270201
- Asian Spine J.
- 2015 Feb;9(1):106-109.
- doi: 10.4184/asj.2015.9.1.106
There is no report that describes in detail the radiological and intraoperative findings of rickets with symptomatic cervical ossification of the posterior longitudinal ligament. Here, we describe a case of... -
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- Sporadic Nonfamilial Hypophosphatemic Osteomalacia
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Shong YK, Park JY, Kim GS, Cho YS, Cho GY, Kim SW, Park JS, Lee KU
- KMID: 2462159
- J Korean Soc Endocrinol.
- 1994 Mar;9(1):25-31.
Chronic hypophosphatemia caused by decreased intestinal absorption or increased renal clearance, may lead to rickets or osteomalacia independently of other predisposing abnormalities. The conditions commonly associated with increased renal clearance... -
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- Vitamin D Resistant Rickets with Secondary Hyperparathyroidism: Report of a Case
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Hahn MS, Lee SH, Cho HO
- KMID: 2461297
- J Korean Orthop Assoc.
- 1976 Sep;11(3):489-493.
- doi: 10.4055/jkoa.1976.11.3.489
Rickets is a syndrome, characterised pathophysiologically by a failure of normal mineralization of bone and epiphyseal cartilage and clinically by skeletal deformity in growing children. The four principal causes of... -
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- Vitamin D Resistant Rickets
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Lee CJ, Chang IY, Park WC
- KMID: 2460403
- J Korean Orthop Assoc.
- 1978 Mar;13(1):67-73.
- doi: 10.4055/jkoa.1978.13.1.67
The discovery and synthesis of vitamin D and the elucidation of the role of sunlight in the activation of the vitamin D precursors changed the syndromes of rickets from a... -
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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 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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- X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
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Vidmar AP, Miyazaki B, Sanchez-Lara PA, Pitukcheewanont P
- KMID: 2397560
- J Bone Metab.
- 2017 Nov;24(4):257-261.
- doi: 10.11005/jbm.2017.24.4.257
There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion... -
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- Rickets
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Park CY
- KMID: 2346022
- J Korean Radiol Soc.
- 1972 Jun;8(2):95-100.
- doi: 10.3348/jkrs.1972.8.2.95
Rickets is known as rare disease nowadays. Among 269,649 concerned clinic patients in 6 and one half yearssince 1965 to june 1971 at Yonsei University Severance Hospital, there were 33... -
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- Skeletal mineralization: mechanisms and diseases
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Michigami
- KMID: 2468721
- Ann Pediatr Endocrinol Metab.
- 2019 Dec;24(4):213-219.
- doi: 10.6065/apem.2019.24.4.213
Skeletal mineralization is initiated in matrix vesicles (MVs), the small extracellular vesicles derived from osteoblasts and chondrocytes. Calcium and inorganic phosphate (Pi) taken up by MVs form hydroxyapatite crystals, which... -
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- Deformity Correction of the Knee and Leg Lengthening by the Ilizarov Method in Children with Vitamin D Resistant Rickets
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Choi IH, Kim JK, Chung CY, Cho TJ
- KMID: 2105692
- J Korean Orthop Assoc.
- 2000 Oct;35(5):711-717.
PURPOSE: The purposes of this study were to evaluate the efficacy of deformity correction of the knee and leg lengthening by the Ilizarov method in patients with vitamin D resistant... -
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- A Case of McCune-Albright Syndrome with Vitamin D Resistant Rickets
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Kang H, Choi JH, Yoo KH, Hong YS, Lee JW, Kim SK
- KMID: 2001762
- J Korean Soc Pediatr Nephrol.
- 1999 Oct;3(2):237-240.
We present the cytologic features of small cell neuroendocrine carcinoma of the liver metastasized from the uterine cervix. Cytologically, tumor cells were arranged in a pat- tern of solid sheet... -
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- Dental management of patients with X-linked hypophosphatemia
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Lee BN, Jung HY, Chang HS, Hwang YC, Oh WM
- KMID: 2379465
- Restor Dent Endod.
- 2017 May;42(2):146-151.
- doi: 10.5395/rde.2017.42.2.146
X-linked hypophosphatemia (XLH) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine, and an associated decrease in serum calcium and potassium... -
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