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Cerebral calcification, osteopetrosis and renal tubular acidosis : is it carbonic anhydrase-II deficiency
Joint Authors
Ali, Ala A. Sh.
al-Mashta, Sarmad A.
Source
Saudi Journal of Kidney Diseases and Transplantation
Issue
Vol. 24, Issue 3 (30 Jun. 2013), pp.561-565, 5 p.
Publisher
Saudi Center for Organ Transplantation
Publication Date
2013-06-30
Country of Publication
Saudi Arabia
No. of Pages
5
Main Subjects
Topics
- Mind
- Kidneys
- Brain
- Diseases
- Carbon dioxide
- Iraq
- Complications(Medicine)
- Calcification
- Renal tubular acidosis
Abstract EN
Carbonic anhydrase-II deficiency is an autosomal recessive disorder with a triad of cerebral calcification, osteopetrosis and renal tubular acidosis (often combined proximal and distal).
Mental retardation, growth failure, complications of osteopetrosis and other features were all recorded in this syndrome.
We present a case of an Iraqi male with all these features and a positive family history.
American Psychological Association (APA)
Ali, Ala A. Sh.& al-Mashta, Sarmad A.. 2013. Cerebral calcification, osteopetrosis and renal tubular acidosis : is it carbonic anhydrase-II deficiency. Saudi Journal of Kidney Diseases and Transplantation،Vol. 24, no. 3, pp.561-565.
https://search.emarefa.net/detail/BIM-328598
Modern Language Association (MLA)
Ali, Ala A. Sh.& al-Mashta, Sarmad A.. Cerebral calcification, osteopetrosis and renal tubular acidosis : is it carbonic anhydrase-II deficiency. Saudi Journal of Kidney Diseases and Transplantation Vol. 24, no. 3 (Jun. 2013), pp.561-565.
https://search.emarefa.net/detail/BIM-328598
American Medical Association (AMA)
Ali, Ala A. Sh.& al-Mashta, Sarmad A.. Cerebral calcification, osteopetrosis and renal tubular acidosis : is it carbonic anhydrase-II deficiency. Saudi Journal of Kidney Diseases and Transplantation. 2013. Vol. 24, no. 3, pp.561-565.
https://search.emarefa.net/detail/BIM-328598
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 565
Record ID
BIM-328598