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Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome

โœ 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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Methylenetetrahydrofolate reductase defi
โœ Tonetti, Carole; Burtscher, Alain; Bories, Dominique; Tulliez, Michel; Zittoun, ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 21 KB ๐Ÿ‘ 2 views

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

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.