Carbonic Anhydrase Type II Deficiency Syndrome

J Gordon Millichap

doi:10.15844/pedneurbriefs-26-1-8

Carbonic Anhydrase Type II Deficiency Syndrome

Pediatric Neurology Briefs

Volume 26 (2012): Issue 1

By: J Gordon Millichap

Open Access

|Jan 2012

Abstract

Researchers at King Saud University, Saudi Arabia and other centers describe the neurological, neuro-ophthalmological and neuroradiological features of 23 patients (10 male, 13 female; age at final exam 2-29 years) from 10 unrelated consanguineous families with carbonic anhydrase type II deficiency syndrome due to homozygous mutation (the ‘Arabic mutation’).

References

Bosley TM Salih MA Alorainy IA Islam MZ Oystreck DT Suliman OS The neurology of carbonic anhydrase type II deficiency syndrome Brain 2011 Dec 134 Pt 12 3499 3512 10.1093/brain/awr302 22120147
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-26-1-8 | Journal eISSN: 2166-6482

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Language: English

Page range: 7 - 7

Published on: Jan 1, 2012

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Carbonic Anhydrase,

Neuroimaging Studies

© 2012 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 26 (2012): Issue 1