Acyl-CoA Dehydrogenase Deficiency and RS

J Gordon Millichap

doi:10.15844/pedneurbriefs-8-5-7

Acyl-CoA Dehydrogenase Deficiency and RS

Pediatric Neurology Briefs

Volume 8 (1994): Issue 5

By: J Gordon Millichap

Open Access

|May 1994

Abstract

A female infant with medium-chain acyl-CoA dehyrogenase (MCAD) deficiency who was diagnosed with Rett syndrome at 3.5 years is reported from Twenteborg Hospital, Almelo, and Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.

References

Beekman RP Hofstee N Smeitink JA Poll-The BT Duran M Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency Eur J Pediatr 1994 Apr 153 4 264 6 8194560 10.1007/BF01954516
Open DOI Search in Google Scholar Back to article
Percy AK Glaze DG Schultz RJ Zoghbi HY Williamson D Frost JD Jr Rett syndrome: controlled study of an oral opiate antagonist, naltrexone Ann Neurol 1994 Apr 35 4 464 70 8154874 10.1002/ana.410350415
Open DOI Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-8-5-7 | Journal eISSN: 2166-6482

Journal RSS Feed

Language: English

Page range: 37 - 37

Published on: May 1, 1994

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Medium-Chain Acyl-CoA Dehyrogenase,

Hypotonia,

Bilateral Spikes

© 1994 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 8 (1994): Issue 5