Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia

• 1 September 2006
• journal article
• case report
• Published by Elsevier in Molecular Genetics and Metabolism
• Vol. 89  (1-2) , 116-120
• https://doi.org/10.1016/j.ymgme.2006.03.010

Abstract

Keywords

• PTERINS
• DYSTONIA
• NEUROTRANSMITTERS
• DOPA-RESPONSIVE
• SEPIAPTERIN REDUCTASE
• AUTOSOMAL RECESSIVE
• DIURNAL VARIATION