Diagnosis and Treatment of Sepiapterin Reductase Deficiency
DOI:
https://doi.org/10.15844/pedneurbriefs-20-11-6Keywords:
Sepiapterin Reductase Deficiency, Homozygous Mutation, EncephalopathyAbstract
The diagnosis and long-term effects of treatment of two cases of sepiapterin reductase deficiency (SRD) are reported from Service de Neuropediatrie, CHU Montpellier, France; University de Sherbrooke, Quebec, Canada; and centers in Germany and Switzerland.Published
2006-11-01
Issue
Section
Metabolic Disorders
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Copyright (c) 2006 The Author(s)
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