Literature DB >> 15701991

Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification.

Melanie Cotter1, Thomas Connell, Eric Colhoun, Owen P Smith, Corrina McMahon.   

Abstract

The authors present a case of osteopetrosis due to carbonic anhydrase II deficiency. Clinical, laboratory and radiologic findings are reported. The genetics of osteopetrosis are reviewed.

Entities:  

Mesh：

Substances：

Year:  2005        PMID： 15701991     DOI： 10.1097/01.mph.0000154068.86987.47

Source DB:  PubMed          Journal:  J Pediatr Hematol Oncol        ISSN： 1077-4114            Impact factor:   1.289


  5 in total

1.  Studying Enzymes by In Vivo C Magnetic Resonance Spectroscopy.

Authors:  Su Xu; Jun Shen
Journal:  Prog Nucl Magn Reson Spectrosc       Date:  2009-10-01       Impact factor: 9.795

2.  Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment.

Authors:  A Del Fattore; B Peruzzi; N Rucci; I Recchia; A Cappariello; M Longo; D Fortunati; P Ballanti; M Iacobini; M Luciani; R Devito; R Pinto; M Caniglia; E Lanino; C Messina; S Cesaro; C Letizia; G Bianchini; H Fryssira; P Grabowski; N Shaw; N Bishop; D Hughes; R P Kapur; H K Datta; A Taranta; R Fornari; S Migliaccio; A Teti
Journal:  J Med Genet       Date:  2005-08-23       Impact factor: 6.318

3.  Carbonic Anhydrase II Deficiency in a Saudi Woman.

Authors:  Omar N Alhuzaim; Ohoud M Almohareb; Safiya M Sherbeeni
Journal:  Clin Med Insights Case Rep       Date:  2015-02-03

4.  Determining the Rate of Carbonic Anhydrase Reaction in the Human Brain.

Authors:  Shizhe Li; Li An; Qi Duan; Maria Ferraris Araneta; Christopher S Johnson; Jun Shen
Journal:  Sci Rep       Date:  2018-02-02       Impact factor: 4.379

5.  A Homozygous Mutation in 5' Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome.

Authors:  Tianping Chen; Jun Sun; Guanghui Liu; Chuangao Yin; Haipeng Liu; Lijun Qu; Shijin Fang; Ash Shifra; Gil Gilad
Journal:  J Pediatr Hematol Oncol       Date:  2021-03-01       Impact factor: 1.170
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.