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Renal tubular acidosis in a Frisian stallion caused by carbonic anhydrase deficiency

✍ Scribed by Kirstin Brandt; J. H. Swagemakers; K. Bickhardt; H. P. Kubis; G. Gross; E. Deegen

Book ID
118104944
Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
388 KB
Volume
10
Category
Article
ISSN
0957-7734

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πŸ“œ SIMILAR VOLUMES

Carbonic anhydrase II deficiency syndrom
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation
✍ Gul N. Shah; Giuseppe Bonapace; Peiyi Y. Hu; Pietro Strisciuglio; William S. Sly πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 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.