Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for...
Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
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Publisher
Berlin/Heidelberg: Springer-Verlag
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Language
English
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Publisher
Berlin/Heidelberg: Springer-Verlag
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Contents
Sepiapterin reductase (SR) catalyzes the final step in the de novo synthesis of tetrahydrobiopterin, essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases. SR deficiency is a very rare disease resulting in monoamine neurotransmitter depletion. Most patients present with clinical symptoms before the first year of age correspond...
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Full title
Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant
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Record Identifier
TN_cdi_proquest_miscellaneous_904487794
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_904487794
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ISSN
1364-6745
E-ISSN
1364-6753
DOI
10.1007/s10048-011-0279-4
