Dopa-Responsive Motor Disorder with Sepiapterin Reductase Deficiency

J Gordon Millichap

doi:10.15844/pedneurbriefs-19-10-7

Dopa-Responsive Motor Disorder with Sepiapterin Reductase Deficiency

Pediatric Neurology Briefs

Volume 19 (2005): Issue 10

By: J Gordon Millichap

Open Access

|Oct 2005

Abstract

The clinical findings in 7 children from Malta, at first suspected to have cerebral palsy and later diagnosed with sepiapterin reductase deficiency, are reported from Great Ormond Street Hospital, London, UK, and St Luke’s Hospital, University of Malta.

References

Neville BG Parascandalo R Farrugia R Felice A Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder Brain 2005 Oct 128 Pt 10 2291 2296 10.1093/brain/awh603 16049044
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Segawa M Nomura Y Nishiyama N Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease) Ann Neurol 2003 54 Suppl 6 S32 S45 12891652
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Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-19-10-7 | Journal eISSN: 2166-6482

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Language: English

Page range: 78 - 78

Published on: Oct 1, 2005

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Dopa-Responsive Congenital Motor Disorder,

Sepiapterin Reductase Deficiency,

Tetrahydrobiopterin

© 2005 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 19 (2005): Issue 10