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Article

Two Greek siblings with sepiapterin reductase deficiency.

Molecular genetics and metabolism - 1 Aug 2008

Verbeek Marcel M, Willemsen Michel A A P, Wevers Ron A, Lagerwerf Aart J, Abeling Nico G G M, Blau Nenad, Thöny Beat, Vargiami Euthymia, Zafeiriou Dimitrios I

Abstract excerpt

BACKGROUND: Sepiapterin reductase (SR) deficiency is a rare inherited disorder of neurotransmitter metabolism; less than 25 cases have been described in the literature so far. METHODS: We describe the clinical history and extensive cerebrospinal fluid (CSF) and urine examination of two Greek sibl...

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Source

Identifiers

PMID: 18502672
DOI: 10.1016/j.ymgme.2008.04.003

Genes

SPR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18502672-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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