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Clinical quiz. Osteopetrosis with carbonic anhydrase II deficiency.

作者信息

Flynn M T, Gill D G

机构信息

Department of Nephrology, Children's Hospital, Dublin 1, Ireland.

出版信息

Pediatr Nephrol. 1996 Feb;10(1):125-6. doi: 10.1007/BF00863464.

DOI:10.1007/BF00863464
PMID:8611338
Abstract
摘要

相似文献

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Clinical quiz. Osteopetrosis with carbonic anhydrase II deficiency.
Pediatr Nephrol. 1996 Feb;10(1):125-6. doi: 10.1007/BF00863464.
2
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Allogenic hematopoietic stem cell transplantation in an Iranian patient with osteopetrosis caused by carbonic anhydrase II deficiency: A case report.一名因碳酸酐酶 II 缺乏导致的成骨不全症伊朗患者接受同种异体造血干细胞移植：病例报告。
Pediatr Transplant. 2024 May;28(3):e14689. doi: 10.1111/petr.14689.
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Clinical and molecular heterogeneity in carbonic anhydrase II deficiency and prenatal diagnosis in an Italian family.意大利一个家族中碳酸酐酶II缺乏症的临床和分子异质性及产前诊断
J Pediatr. 1998 Apr;132(4):717-20. doi: 10.1016/s0022-3476(98)70367-1.
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Intracranial calcification in children with osteopetrosis caused by carbonic anhydrase II deficiency.
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9
Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase-II deficiency).输注富含碳酸酐酶的红细胞无法纠正骨石化、肾小管酸中毒和脑钙化综合征（碳酸酐酶II缺乏症）中的酸化缺陷。
J Bone Miner Res. 1988 Aug;3(4):385-8. doi: 10.1002/jbmr.5650030404.
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[Kidney tubular transport disorders. Carbonic anhydrase II deficiency].[肾小管转运障碍。碳酸酐酶II缺乏症]
Nihon Rinsho. 1989 Jul;47(7):1646-8.

本文引用的文献

1
Pediatric urolithiasis: review of research and current management.
Pediatr Nephrol. 1994 Aug;8(4):508-12. doi: 10.1007/BF00856552.
2
Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis.在涉及骨质石化症和/或肾小管酸中毒的病症中对碳酸酐酶同工酶的评估。
Clin Biochem. 1991 Aug;24(4):311-8. doi: 10.1016/0009-9120(91)80005-n.
3
Osteopetrosis.
Semin Nephrol. 1992 Mar;12(2):191-9.
4
The pathogenesis and treatment of kidney stones.
肾结石的发病机制与治疗
N Engl J Med. 1992 Oct 15;327(16):1141-52. doi: 10.1056/NEJM199210153271607.