Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

doi:10.1002/ana.22685

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Article

Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

Annals of neurology - 1 Apr 2012

Friedman Jennifer, Roze Emmanuel, Abdenur Jose E, Chang Richard, Gasperini Serena, Saletti Veronica, Wali Gurusidheshwar M, Eiroa Hernan, Neville Brian, Felice Alex, Parascandalo Ray, Zafeiriou Dimitrios I, Arrabal-Fernandez Luisa, Dill Patricia, Eichler Florian S, Echenne Bernard, Gutierrez-Solana Luis G, Hoffmann Georg F, Hyland Keith, Kusmierska Katarzyna, Tijssen Marina A J, Lutz Thomas, Mazzuca Michel, Penzien Johann, Poll-The Bwee Tien, Sykut-Cegielska Jolanta, Szymanska Krystyna, Thöny Beat, Blau Nenad

Abstract excerpt

OBJECTIVE: Sepiapterin reductase deficiency (SRD) is an under-recognized levodopa-responsive disorder. We describe clinical, biochemical, and molecular findings in a cohort of patients with this treatable condition. We aim to improve awareness of the phenotype and available diagnostic and therapeutic strategies to reduce delayed diagnosis or misdiagnosis, optimize management, and improve understanding of...

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PMID: 22522443
DOI: 10.1002/ana.22685

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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