Refsum disease; phytanic acid oxidase deficiency; phytanic acid storage disease

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Introduction

see NINDS Refsum Disease Information Page

Pathology

Genetics

  • associated with defects in PEX7
  • associated with defects in PHYH

Clinical manifestations

Laboratory

More general terms

More specific terms

References

  1. Wikipedia: Refsum disease http://en.wikipedia.org/wiki/Refsum_disease
  2. Zalewska A; Schwartz RA; James WD Medscape: Refsum Disease http://emedicine.medscape.com/article/1114720-overview
  3. National Institute of Neurological Disorders and Stroke (NINDS) NINDS Refsum Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Refsum-Disease-Information-Page

Database