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Quoted phrase not found in phrase index: "Autosomal recessive osteopetrosis 5"
Page 1
Osteopetrosis.
Stark Z, Savarirayan R. Stark Z, et al. Orphanet J Rare Dis. 2009 Feb 20;4:5. doi: 10.1186/1750-1172-4-5. Orphanet J Rare Dis. 2009. PMID: 19232111 Free PMC article. Review.
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an incidence of 1 in 250,000 births, and autosomal dominant osteopetrosis (ADO) has an incidence of 1 in 20,000 births. ...These c …
The overall incidence of these conditions is difficult to estimate but autosomal recessive osteopetrosis (ARO) has an i …
A clinical and molecular overview of the human osteopetroses.
Balemans W, Van Wesenbeeck L, Van Hul W. Balemans W, et al. Calcif Tissue Int. 2005 Nov;77(5):263-74. doi: 10.1007/s00223-005-0027-6. Epub 2005 Nov 16. Calcif Tissue Int. 2005. PMID: 16307387 Review.
The osteopetroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density due to a defect in osteoclastic bone resorption. In humans, several types can be distinguished and a classification has been made based on their mode of in …
The osteopetroses are a heterogeneous group of bone remodeling disorders characterized by an increase in bone density due to a defect …
Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century.
Aggarwal S. Aggarwal S. Gene. 2013 Oct 1;528(1):41-5. doi: 10.1016/j.gene.2013.04.069. Epub 2013 May 5. Gene. 2013. PMID: 23657117 Review.
Osteopetrosis, which remained an enigma in the early part of its description, is now known to be genetically heterogenous. Other disorders in this group, which were initially described as variant forms of osteopetrosis, are now recognised to be distinct conditions. …
Osteopetrosis, which remained an enigma in the early part of its description, is now known to be genetically heterogenous. Other diso …
Clinical presentation and analysis of genotype-phenotype correlations in patients with malignant infantile osteopetrosis.
Even-Or E, Schiesel G, Simanovsky N, NaserEddin A, Zaidman I, Elpeleg O, Mor-Shaked H, Stepensky P. Even-Or E, et al. Bone. 2022 Jan;154:116229. doi: 10.1016/j.bone.2021.116229. Epub 2021 Oct 8. Bone. 2022. PMID: 34624559
Malignant infantile osteopetrosis (MIOP) is the autosomal recessive, severe form of osteopetrosis. ...Other genetic mutations included RANK (n = 7, 8.7%), CLCN7 (n = 5, 6.2%) and CA2 (n = 3, 3.7%). More than half of the patients presented with g …
Malignant infantile osteopetrosis (MIOP) is the autosomal recessive, severe form of osteopetrosis. ...Other gene …
Autosomal recessive osteopetrosis: bone marrow imaging.
Elster AD, Theros EG, Key LL, Stanton C. Elster AD, et al. Radiology. 1992 Feb;182(2):507-14. doi: 10.1148/radiology.182.2.1732971. Radiology. 1992. PMID: 1732971
Technetium-99m sulfur colloid scintigraphy was performed prospectively in 12 infants and children with autosomal recessive osteopetrosis, to correlate the appearance of bone marrow stores with advancing age. ...In patients younger than 1 year, marrow stores w …
Technetium-99m sulfur colloid scintigraphy was performed prospectively in 12 infants and children with autosomal recessive …
Pediatric patient with a bilateral Salter-Harris II fracture and slipped capital femoral epiphysis secondary to autosomal recessive osteopetrosis.
Jaber A, Schwarze M, Steinle V, Götze M, Hagmann S. Jaber A, et al. Orthopadie (Heidelb). 2022 Dec;51(12):1015-1021. doi: 10.1007/s00132-022-04278-x. Epub 2022 Jul 8. Orthopadie (Heidelb). 2022. PMID: 35802155 Free PMC article.
Treatment of femoral neck fractures secondary to osteopetrosis is an uncertain and puzzled decision. Experience in the treatment, especially in the pediatric population, is scarcely reported. ...The recommended treatment is closed reduction and internal fixation; however, …
Treatment of femoral neck fractures secondary to osteopetrosis is an uncertain and puzzled decision. Experience in the treatment, esp …
Comparison of Optic Canal Diameter in Children With Malignant Infantile Osteopetrosis and Normal Children and the Effects of Hematopoietic Stem Cell Transplantation on the Optic Canal Diameter.
Cao W, Wei W, Yu G, Wu Q, Qin M. Cao W, et al. J Pediatr Ophthalmol Strabismus. 2019 Jan 23;56(1):35-42. doi: 10.3928/01913913-20180921-01. Epub 2018 Oct 26. J Pediatr Ophthalmol Strabismus. 2019. PMID: 30371911
PURPOSE: To investigate the difference in the optic canal diameter between children with autosomal recessive malignant infantile osteopetrosis and normal children, and to assess the influence of hematopoietic stem cell transplantation on the optic canal diame …
PURPOSE: To investigate the difference in the optic canal diameter between children with autosomal recessive malignant infanti …
Hypercalcemia and altered biochemical bone markers in post-bone marrow transplantation osteopetrosis: a case report and literature review.
Kulpiya A, Mahachoklertwattana P, Pakakasama S, Hongeng S, Poomthavorn P. Kulpiya A, et al. Pediatr Transplant. 2012 Aug;16(5):E140-5. doi: 10.1111/j.1399-3046.2011.01475.x. Epub 2011 Feb 16. Pediatr Transplant. 2012. PMID: 21323826 Review.
Autosomal recessive osteopetrosis is a rare disorder of bone resorption defect that results in generalized sclerotic bones and bone marrow failure. ...Bone resorption but not bone formation marker was persistently elevated despite having normocalcemia during …
Autosomal recessive osteopetrosis is a rare disorder of bone resorption defect that results in generalized sclerotic bo …
Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group.
Gerritsen EJ, Vossen JM, Fasth A, Friedrich W, Morgan G, Padmos A, Vellodi A, Porras O, O'Meara A, Porta F, et al. Gerritsen EJ, et al. J Pediatr. 1994 Dec;125(6 Pt 1):896-902. doi: 10.1016/s0022-3476(05)82004-9. J Pediatr. 1994. PMID: 7996361 Clinical Trial.
The outcomes of 69 patients who received allogeneic bone marrow grafts for autosomal recessive osteopetrosis in the period between 1976 and 1994 were analyzed retrospectively. ...Engraftment of healthy donor cells had no influence on the progression of that a …
The outcomes of 69 patients who received allogeneic bone marrow grafts for autosomal recessive osteopetrosis in the per …
Managing challenging pain and irritability in OSTM1 mutation-related infantile malignant osteopetrosis.
Alotaibi Q, Dighe M. Alotaibi Q, et al. BMJ Case Rep. 2021 May 19;14(5):e242498. doi: 10.1136/bcr-2021-242498. BMJ Case Rep. 2021. PMID: 34011644 Free PMC article.
Osteopetrosis describes a heterogeneous group of diseases characterised by increased bone density due to impaired osteoclast. The malignant infantile autosomal recessive (MIOP) form caused by mutations in OSTM1 is the most severe form of osteopetrosis. …
Osteopetrosis describes a heterogeneous group of diseases characterised by increased bone density due to impaired osteoclast. The mal …
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