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A newborn twin with unusual chest radiograph.

作者信息

Thomas B, Elias-Jones A C, Sridhar A V

机构信息

Department of Child Health, Robert Kilpatrick Clinical Sciences Building, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, Leicester LE2 7LX, UK.

出版信息

Postgrad Med J. 2006 Nov;82(973):e28. doi: 10.1136/pgmj.2006.051516.

DOI:10.1136/pgmj.2006.051516
PMID:17099085
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2660511/
Abstract
摘要

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本文引用的文献

1
Autosomal recessive osteopetrosis: diagnosis, management, and outcome.常染色体隐性遗传性骨硬化症:诊断、管理及预后
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2
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.
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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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Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course.常染色体隐性遗传性骨硬化症:诊断时及自然病程中的表现差异
Pediatrics. 1994 Feb;93(2):247-53.
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Megadose methylprednisolone treatment for malignant osteopetrosis.
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Long-term treatment of osteopetrosis with recombinant human interferon gamma.重组人干扰素γ对骨硬化症的长期治疗
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Treatment of congenital osteopetrosis with high-dose calcitriol.
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Morphologic features of bone in human osteopetrosis.人类骨硬化症中骨骼的形态学特征。
Bone. 1991;12(6):411-9. doi: 10.1016/8756-3282(91)90030-m.