Diagnosis and Treatment of Sepiapterin Reductase Deficiency

J Gordon Millichap

doi:10.15844/pedneurbriefs-20-11-6

Diagnosis and Treatment of Sepiapterin Reductase Deficiency

Pediatric Neurology Briefs

Volume 20 (2006): Issue 11

By: J Gordon Millichap

Open Access

|Nov 2006

Abstract

The diagnosis and long-term effects of treatment of two cases of sepiapterin reductase deficiency (SRD) are reported from Service de Neuropediatrie, CHU Montpellier, France; University de Sherbrooke, Quebec, Canada; and centers in Germany and Switzerland.

References

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
Open DOI Search in Google Scholar Back to article
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
Open DOI Search in Google Scholar Back to article
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
Open DOI Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-20-11-6 | Journal eISSN: 2166-6482

Journal RSS Feed

Language: English

Page range: 85 - 86

Published on: Nov 1, 2006

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Sepiapterin Reductase Deficiency,

Homozygous Mutation,

Encephalopathy

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

Volume 20 (2006): Issue 11