Diagnosis and Treatment of Sepiapterin Reductase Deficiency

Open Access

|Nov 2006

Echenne B Roubertie A Assmann B Lutz T Penzien JM Thöny B Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy Pediatr Neurol 2006 Nov 35 5 308 313 10.1016/j.pediatrneurol.2006.05.006 17074599
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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 10.1002/ana.10630 12891652
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Language: English

Page range: 85 - 86

Published on: Nov 1, 2006

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

© 2006 J Gordon Millichap, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.