Genetic Conditions > sepiapterin reductase deficiency >

References

These sources were used to develop the Genetics Home Reference condition summary on sepiapterin reductase deficiency.

Abeling NG, Duran M, Bakker HD, Stroomer L, Thöny B, Blau N, Booij J, Poll-The BT. Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. Mol Genet Metab. 2006 Sep-Oct;89(1-2):116-20. Epub 2006 May 2. PubMed citation
Arrabal L, Teresa L, Sánchez-Alcudia R, Castro M, Medrano C, Gutiérrez-Solana L, Roldán S, Ormazábal A, Pérez-Cerdá C, Merinero B, Pérez B, Artuch R, Ugarte M, Desviat LR. Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. Neurogenetics. 2011 Aug;12(3):183-91. doi: 10.1007/s10048-011-0279-4. Epub 2011 Mar 24. PubMed citation
Blau N, Bonafé L, Thöny B. Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency. Mol Genet Metab. 2001 Sep-Oct;74(1-2):172-85. Review. PubMed citation
Echenne B, Roubertie A, Assmann B, Lutz T, Penzien JM, Thöny B, Blau N, Hoffmann GF. Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy. Pediatr Neurol. 2006 Nov;35(5):308-13. PubMed citation
Longo N. Disorders of biopterin metabolism. J Inherit Metab Dis. 2009 Jun;32(3):333-42. doi: 10.1007/s10545-009-1067-2. Epub 2009 Feb 9. Review. Erratum in: J Inherit Metab Dis. 2009 Jun;32(3):457. PubMed citation
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):2291-6. Epub 2005 Jul 27. PubMed citation
Verbeek MM, Willemsen MA, Wevers RA, Lagerwerf AJ, Abeling NG, Blau N, Thöny B, Vargiami E, Zafeiriou DI. Two Greek siblings with sepiapterin reductase deficiency. Mol Genet Metab. 2008 Aug;94(4):403-9. doi: 10.1016/j.ymgme.2008.04.003. Epub 2008 May 27. PubMed citation
Zorzi G, Redweik U, Trippe H, Penzien JM, Thöny B, Blau N. Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency. Mol Genet Metab. 2002 Feb;75(2):174-7. PubMed citation


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