Autosomal recessive osteopetrosis: diagnosis, management, and outcome.
作者信息
Wilson C J, Vellodi A
机构信息
Metabolic Unit, Great Ormond Street Hospital for Children, Great Ormond Street, London WC1N 3JH, UK.
出版信息
Arch Dis Child. 2000 Nov;83(5):449-52. doi: 10.1136/adc.83.5.449.
Abstract
摘要
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本文引用的文献
1
Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis.液泡质子泵的TCIRG1亚基缺陷是人类常染色体隐性骨硬化症的一个子集的病因。
Nat Genet. 2000 Jul;25(3):343-6. doi: 10.1038/77131.
2
Study of the nonresorptive phenotype of osteoclast-like cells from patients with malignant osteopetrosis: a new approach to investigating pathogenesis.
J Bone Miner Res. 2000 Feb;15(2):352-60. doi: 10.1359/jbmr.2000.15.2.352.
3
Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients.II型常染色体显性遗传性骨硬化症（阿尔伯斯-尚伯格病）：42例患者的临床及影像学表现
Bone. 2000 Jan;26(1):87-93. doi: 10.1016/s8756-3282(99)00244-6.
4
Importance of neurological assessment before bone marrow transplantation for osteopetrosis.骨髓移植治疗骨硬化症前神经学评估的重要性。
Arch Dis Child. 1999 Mar;80(3):273-4. doi: 10.1136/adc.80.3.273.
5
Orthopedic management of osteopetrosis: results of a survey and review of the literature.
J Pediatr Orthop. 1999 Jan-Feb;19(1):122-32.
6
Early VEP and ERG evidence of visual dysfunction in autosomal recessive osteopetrosis.常染色体隐性遗传性骨硬化症视觉功能障碍的早期视觉诱发电位和视网膜电图证据
Neuropediatrics. 1998 Jun;29(3):137-44. doi: 10.1055/s-2007-973550.
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Malignant infantile osteopetrosis: otolaryngological complications and management.
Arch Otolaryngol Head Neck Surg. 1998 Jun;124(6):689-94. doi: 10.1001/archotol.124.6.689.
8
Bone marrow scintigraphy with technetium-99m anti-NCA-95 to monitor therapy in malignant osteopetrosis.用锝-99m抗NCA-95骨髓闪烁显像术监测恶性骨硬化症的治疗。
J Nucl Med. 1998 Jun;39(6):1033-5.
9
Developmental spectrum of children with congenital osteopetrosis.先天性骨硬化症患儿的发育谱系
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Recent developments in the understanding of the pathophysiology of osteopetrosis.关于骨质石化症病理生理学认识的最新进展。
Eur J Endocrinol. 1996 Feb;134(2):143-56. doi: 10.1530/eje.0.1340143.
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