Ornithine Transcarbamylase Deficiency

Gregory L. Holmes

in Pediatric Neurology

Published on behalf of Oxford University Press

Published in print April 2010 | ISBN: 9780195394580
Published online April 2013 | e-ISBN: 9780199322923 | DOI:

Series: What Do I Do Now?

Ornithine Transcarbamylase Deficiency

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This is one of the urea cycle defects and can present within days of birth. Prompt diagnosis can prevent many of the serious sequelae associated with accumulation of ammonia.

Chapter.  1192 words.  Illustrated.

Subjects: Neurology

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