Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome
โ Scribed by Danny Lotan; Arik Eisenkraft; Jeffrey M. Jacobsson; Omer Bar-Yosef; Robert Kleta; Nurit Gal; Lisa Raviv-Zilka; Hagar Gore; Yair Anikster
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 228 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0931-041X
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A diagnosis of methylenetetrahydrofolate reductase (MTHFR) deficiency was made in four sibs at different ages. The first three, including a pair of twins, had retarded psychomotor development, poor social contact, and seizures. Biologically, hyperhomocysteinemia and hypomethioninemia were found asso
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.