Sepiapterin Reductase Deficiency: Mimic of Cerebral Palsy

Authors

  • J Gordon Millichap Northwestern University Feinberg School of Medicine

DOI:

https://doi.org/10.15844/pedneurbriefs-26-6-6

Keywords:

Axial Hypotonia, Dystonia, Oculogyric Crises

Abstract

Researchers at University of California at San Diego, and 22 other US national and international centers studied the clinical, biochemical, and molecular findings in a cohort of 38 patients with sepiapterin reductase deficiency (SRD).

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Published

2012-06-01

Issue

Section

Metabolic Disorders