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Autoantibodies against carbonic anhydrase II are increased in renal tubular acidosis associated with Sjögren syndrome

✍ Scribed by Fumi Takemoto; Junichi Hoshino; Naoki Sawa; Yoshifuru Tamura; Tetsuo Tagami; Masafumi Yokota; Hideyuki Katori; Keitaro Yokoyama; Yoshifumi Ubara; Shigeko Hara; Kenmei Takaichi; Akira Yamada; Shunya Uchida


Book ID
116210366
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
102 KB
Volume
118
Category
Article
ISSN
1555-7162

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Carbonic anhydrase II deficiency syndrom
✍ Gul N. Shah; Giuseppe Bonapace; Peiyi Y. Hu; Pietro Strisciuglio; William S. Sly 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 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.