- Bilateral Transverse (Bowdler) Fibular Spurs with Hypophosphatasia in an Adolescent Girl
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Uras I, Uras N, Karadag A, Yavuz OY, Atalar H
- KMID: 1783175
- Korean J Radiol.
- 2005 Mar;6(1):52-54.
- doi: 10.3348/kjr.2005.6.1.52
Hypophosphatasia is a clinically heterogeneous inheritable disorder characterized by defective bone mineralization and the deficiency of serum and tissue liver/bone/kidney alkaline phosphatase activities. Due to the mineralization defect of the... -
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- Prenatal diagnosis of hypophosphatasia congenita using ultrasonography
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Guguloth A, Aswani Y, Anandpara
- KMID: 2382023
- Ultrasonography.
- 2016 Jan;35(1):83-86.
- doi: 10.14366/usg.15008
Congenital hypophosphatasia is a rare fatal skeletal dysplasia. Antenatal determinants of Epub ahead of print lethality include small thoracic circumference with pulmonary hypoplasia and severe micromelia. These features were present... -
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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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- Lethal neonatal short-limbed dwarfism
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Kim OH, Yim CI, Bahk YW
- KMID: 2462379
- J Korean Radiol Soc.
- 1986 Feb;22(1):151-159.
- doi: 10.3348/jkrs.1986.22.1.151
We have detailed our experiences on 6 cases of neonatal lethal short- limbed dwarfism and reviewed thearticles. They include, achondrogenesis, thanatophoric dysplasia, asphsiating thoracic dysplasia, osteogenesisimperfecta congenita, and hypophosphatasia lethalis.... -
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- Familiarly Developed Vitamine D Resistant Rickets: Case Report
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Woo YK, Moon MS, Lee HD
- KMID: 2446577
- J Korean Orthop Assoc.
- 1984 Aug;19(4):723-729.
- doi: 10.4055/jkoa.1984.19.4.723
Rickets is a syndrome, characterized pathophysiologically by a failure of normal mineralization of bone and epiphyseal cartilage and clinically by skeletal deformity in growing children. The five principal causes of... -
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- Idiopathic Calcium Pyrophosphate Dihydrate (CPPD) Crystal Deposition Disease in a Young Female Patient : A Case Report
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Choi ES, Park KJ, Kim YM, Kim DS, Shon HC, Cho BK, Lee HC
- KMID: 2101895
- J Korean Shoulder Elbow Soc.
- 2009 Jun;12(1):84-88.
PURPOSE: Calcium pyrophosphate dihydrate crystal deposition disease(CPPD) is a disease of the elderly and extremely rare in young individuals. If young people develop CPPD crystal deposition disease, it may be... -
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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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- A Case of Calcium Pyrophosphate Dihydrate Deposition Disease Associated with Primary Hyperparathyroidism
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Son CN, Lee JY, Kim D, Joo KB, Lee S, Song YS, Kim DS, Tae K, Yoo TS, Jun JB
- KMID: 2094662
- J Rheum Dis.
- 2014 Apr;21(2):82-86.
- doi: 10.4078/jrd.2014.21.2.82
Calcium pyrophosphate dihydrate (CPPD) deposition disease is a heterogeneous group of diseases with CPPD crystal deposition. Aging is the most common risk factor for CPPD deposition, followed by osteoarthritis and... -
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