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Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis

โœ Scribed by William S. Sly; Seiji Sato; Xin Liang Zhu


Book ID
107740457
Publisher
Elsevier Science
Year
1991
Tongue
English
Weight
897 KB
Volume
24
Category
Article
ISSN
0009-9120

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๐Ÿ“œ SIMILAR VOLUMES


Carbonic anhydrase II deficiency syndrom
โœ Gul N. Shah; Giuseppe Bonapace; Peiyi Y. Hu; Pietro Strisciuglio; William S. Sly ๐Ÿ“‚ Article ๐Ÿ“… 2004 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 319 KB

The carbonic anhydrase II (CA II) deficiency syndrome is an autosomal recessive disorder that produces osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include developmental delay, short stature, cognitive defects, and a history of multiple fractures by adolescence.