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Carbonic Anhydrase II Activators in Osteopetrosis Treatment: A Review [PDF]

Current Issues in Molecular Biology, 2023
Osteopetrosis is a rare hereditary illness generated by failure in osteoclasts resulting in elevated bone densities. Patients with osteopetrosis possess several complications, like dental caries, earlier teeth loss, delayed eruption, malformed crowns and
Zikra Alkhayal, Zakia Shinwari, Ameera Gaafar, Ayodele Alaiya   +3 more
doaj   +2 more sources

Osteopetrosis [PDF]

Medical Journal Armed Forces India, 2003
ABSTRACT
V, Venkateshwar, Ashima, Vaidya, Partho, Roy, Sangeeta, Sampat, J K, De   +4 more
  +8 more sources

Osteopetrosis-like disorders induced by osteoblast-specific retinoic acid signaling inhibition in mice [PDF]

Bone Research
Osteopetrosis is an inherited metabolic disease, characterized by increased bone density and narrow marrow cavity. Patients with severe osteopetrosis exhibit abnormal bone brittleness, anemia, and infection complications, which commonly cause death ...
Siyuan Sun, Yuanqi Liu, Jiping Sun, Bingxin Zan, Yiwen Cui, Anting Jin, Hongyuan Xu, Xiangru Huang, Yanfei Zhu, Yiling Yang, Xin Gao, Tingwei Lu, Xinyu Wang, Jingyi Liu, Li Mei, Lei Shen, Qinggang Dai, Lingyong Jiang   +17 more
doaj   +4 more sources

Can transient neonatal osteosclerosis be differentiated from malignant infantile osteopetrosis? [PDF]

Bone Reports
Osteosclerosis in infancy requires careful evaluation as it may indicate the presence of osteopetrosis. Osteopetrosis is a rare disorder of high bone density due to impaired osteoclast resorption.
Sarah A. Ackah, Boaz Karmazyn, Alden Dewey, Michael J. Econs, Gang Peng, Corinne Parks-Schenck, Jodi L. Skiles, Paul Niziolek, Linda A. DiMeglio, Stuart J. Warden, Erik A. Imel   +10 more
doaj   +2 more sources

Osteopetrosis [PDF]

Orphanet Journal of Rare Diseases, 2009
Osteopetrosis ("marble bone disease") is a descriptive term that refers to a group of rare, heritable disorders of the skeleton characterized by increased bone density on radiographs. The overall incidence of these conditions is difficult to estimate but
Savarirayan Ravi, Stark Zornitza
doaj   +8 more sources

Multiple revision surgeries after total hip arthroplasty in a patient with osteopetrosis: a case report with 24 years of follow-up [PDF]

BMC Musculoskeletal Disorders
Osteopetrosis, also recognized as marble bone disease, denotes a rare hereditary skeletal condition. It is distinguished by faulty osteoclast resorption, resulting in universally rigid and brittle bones. Secondary osteoarthritis often occurs in young and
Wenkang Ling, Wei He, Leilei Chen
doaj   +2 more sources

Metabolomics study of osteopetrosis caused by CLCN7 mutation reveals novel pathway and potential biomarkers [PDF]

Frontiers in Endocrinology
ObjectiveCLCN7 mutation caused abnormal osteoclasts, resulting in osteopetrosis. Depending on the type of mutation, CLCN7 mutations can lead to severe or relatively benign forms of osteopetrosis.
Xi Chen, Ziyuan Wang, Wenzhen Fu, Zhe Wei, Jiemei Gu, Chun Wang, Zhenlin Zhang, Zhenlin Zhang, Xiangtian Yu, Weiwei Hu   +9 more
doaj   +2 more sources

Osteopetrosis as a rare cause of anaemia in paediatric patients: a case report

Pediatria i Medycyna Rodzinna, 2019
Anaemia is a common manifestation in paediatric patients. The most common cause of anaemia is iron deficiency. In differential diagnosis not only the most common diseases resulting in haemoglobin decrease should be considered, but also those less common.
Anna Fałkowska, Janina Marta Choma, Dominik Grabowski, Katarzyna Drabko   +3 more
doaj   +3 more sources

Osteopetrosis: Report of a rare case

Journal of Indian Academy of Oral Medicine and Radiology, 2012
Osteopetrosis is a rare genetic disorder that causes generalized sclerosis of bone due to a defect in bone resorption and remodeling. Osteomyelitis is well documented as a complication of osteopetrosis.
Nabikhan Ahmedkhan Athani, Mangala Parbhu Kakaraddi, Basawaraj N Kallalli, DNS V Ramesh   +3 more
doaj   +2 more sources

Management of Pathological Subtrochanteric Fractures in Two Patients with Osteopetrosis. [PDF]

J Orthop Case Rep
Singh C, Singh HP, Parihar K, Chaurasia A, Kumar B, Agarwal P.   +5 more
europepmc   +2 more sources