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Refsum's disease
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OMIM - Congenital disorder
OMIM - Refsum disease
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Disruption of mitochondrial bioenergetics and calcium homeostasis by phytanic acid in the heart: Pot…
Fibroblast-specific genome-scale modelling predicts an imbalance in amino acid metabolism in Refsum …
Evidence of increases of phytol and chlorophyllide by enzymatic dephytylation of chlorophylls in smo…
Cochlear Implantation in Siblings With Refsum's Disease.
Pronounced band keratopathy in Refsum's syndrome].
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Inherited Retinal Degenerative Disease Registry
Natural History Study for Charcot Marie Tooth Disease
Study of Bile Acids in Patients With Peroxisomal Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
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