Author:
Lotan Danny,Eisenkraft Arik,Jacobsson Jeffrey M.,Bar-Yosef Omer,Kleta Robert,Gal Nurit,Raviv-Zilka Lisa,Gore Hagar,Anikster Yair
Publisher
Springer Science and Business Media LLC
Subject
Nephrology,Pediatrics, Perinatology, and Child Health
Reference14 articles.
1. Ohlsson A, Cumming WA, Paul A, Sly WS (1986) Carbonic anhydrase II deficiency syndrome: Recessive osteopetrosis with renal tubular acidosis and cerebral calcification. Pediatrics 77:371–381
2. Nagai R, Kooh SW, Balfe JW, Fenton T, Halperin ML (1997) Renal tubular acidosis and osteopetrosis with carbonic anhydrase II deficiency: pathogenesis of impaired acidification. Pediatr Nephrol 11:633–636
3. McMahon C, Will A, Hu P, Shah GN, Sly WS, Owen PS (2001) Bone marrow transplantation corrects osteopetrosis in the carbonic anhydrase II deficiency syndrome. Blood 97:1947–1950
4. Shah GN, Bonapace G, Hu PY, Strisciuglio P, Sly WS (2004) Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcifications): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. Hum Mutat 24:272
5. Hu PY, Lim EJ, Ciccolella J, Strisciuglio P, Sly WS (1997) Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis. Hum Mutat 9:383–387
Cited by
13 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献