Zobrazeno 1 - 10
of 386
pro vyhledávání: '"autosomal recessive osteopetrosis"'
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Osteopetrosis is a genetic condition of the skeleton characterized by increased bone density caused by osteoclast formation and function defects. Osteopetrosis is inherited in the form of autosomal dominant and autosomal recessive manner. We report a
Externí odkaz:
https://doaj.org/article/ebbf005dfae44af88f67ca846868a851
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants
Autor:
Chunyu Liu, Muhammad Ajmal, Zaineb Akram, Tariq Ghafoor, Muhammad Farhan, Sobia Shafique, Sughra Wahid, Shahar Bano, Jianqiu Xiao, Humayoon Shafique Satti, Feng Zhang, Tahir Naeem Khan
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-9 (2021)
Abstract Osteopetrosis is a genetically heterogenous, fatal bone disorder characterized by increased bone density. Globally, various genetic causes are reported for osteopetrosis with all forms of inheritance patterns. A precise molecular diagnosis i
Externí odkaz:
https://doaj.org/article/2bf5b2c415524ca4aafc8083fa1e385f
Autor:
Ping Wu, Zhe Cai, Wen-Hui Jiang, Gen Lu, Pei-Qiong Wu, Zhi-Wei Xie, Jun-Zheng Peng, Chen Chen, Jun-Ye Qi, Li-Zhen Xu, Kun-Ling Shen, Hua-Song Zeng, Gen-Quan Yin
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-7 (2021)
Abstract Background Infantile malignant osteopetrosis (IMO) is a rare autosomal recessive disease characterized by a higher bone density in bone marrow caused by the dysfunction of bone resorption. Clinically, IMO can be diagnosed with medical examin
Externí odkaz:
https://doaj.org/article/dbf1afff0b1645f39cbb949b3484053a
Publikováno v:
BMC Surgery, Vol 21, Iss 1, Pp 1-8 (2021)
Abstract Background Osteopetrosis is a genetic disease characterized by defects in osteoclast formation and function. There were a few cases of subtrochanteric femur fractures treated with dynamic hip screw (DHS) in patients with osteopetrosis, but u
Externí odkaz:
https://doaj.org/article/ab0a9764aa4b4d6eb038616f05ea08fd
Autor:
Ilana Moscatelli, Elena Almarza, Axel Schambach, David Ricks, Ansgar Schulz, Christopher D. Herzog, Kim Henriksen, Maria Askmyr, Jonathan D. Schwartz, Johan Richter
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 20, Iss , Pp 389-397 (2021)
Infantile malignant osteopetrosis is a devastating disorder of early childhood that is frequently fatal and for which there are only limited therapeutic options. Gene therapy utilizing autologous hematopoietic stem and progenitor cells represents a p
Externí odkaz:
https://doaj.org/article/c0603ecb4f8d4f5388fd9fa854ead6c3
Autor:
Máté Horváth, Orsolya Horváth, Csaba Kassa, Gabriella Kertész, Vera Goda, Lidia Hau, Anita Stréhn, Krisztián Kállay, Gergely Kriván
Publikováno v:
Children, Vol 10, Iss 4, p 675 (2023)
Background: Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder of bone metabolism, primarily affecting the remodelling function of osteoclasts. Haematopoietic stem cell transplantation (HSCT) is the first-line treatment for ARO. Tradi
Externí odkaz:
https://doaj.org/article/dfd3ddcb48744a5390c7d6fd8106db2f
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background Osteopetrosis is characterized by increased bone density and bone marrow cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their differentiation and absorption properties usually caused by bialle
Externí odkaz:
https://doaj.org/article/b081c2e76e334c6e83a804ab1ec8098b
Akademický článek
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Autor:
Frattini, Annalisa, Blair, Harry C., Cerisoli, Francesco, Sobacchi, Cristina, Kalla, Sara E., Bruzzone, Maria Grazia, Magli, Maria Cristina, Vezzoni, Paolo, Villa, Anna
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2005 Oct 01. 102(41), 14629-14634.
Externí odkaz:
https://www.jstor.org/stable/4143368
Publikováno v:
The Egyptian Journal of Radiology and Nuclear Medicine, Vol 48, Iss 1, Pp 237-243 (2017)
Malignant infantile autosomal recessive osteopetrosis (ARO) is rare hereditable skeletal dysplasia characterized by a generalized osteosclerosis. ARO usually runs a fatal course in early childhood if untreated. Serious complications can arise from bo
Externí odkaz:
https://doaj.org/article/f90beb6f0afc445fade4fd8e03892323