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National Institutes of Health
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Plasmalogen levels in Gaucher disease.
Blood cells, molecules & diseases
Corpus ID: 46475224
Plasmalogens represent a unique type of phospholipids characterized by the presence of a vinyl-ether bond at the sn-1 position of…
Tremor and deep white matter changes in α-methylacyl-CoA racemase deficiency
Corpus ID: 72092114
α-Methylacyl-coenzyme A (CoA) racemase deficiency is a peroxisomal disorder leading to accumulation of pristanate and bile acid…
Presence of plasma branched-chain fatty acids in multineuronal degeneration, hepatosplenomegaly and adrenocortical insufficiency
Jeffrey K. Yao
Journal of the Neurological Sciences
Corpus ID: 44819443
We have previously reported a unique disorder in two brothers with multi-system neuronal degeneration, hepatosplenomegaly and…
Refsum's disease: characterization of the enzyme defect in cell culture.
The Journal of clinical investigation
Corpus ID: 6825944
Refsum's disease (heredopathia atactica polyneuritiformis, HAP) is an inherited neurological disorder associated with storage of…
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