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 siblings with the diagnosis of SR deficiency. The diagnosis was confirmed by enzyme activity measurement in cultured...
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