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Last Updated : 06/20/2022

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Found 26 publications

Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis.

Very long chain acylcarnitines and lysophosphatidylcholines in screening of peroxisomal disease in children by tandem mass spectrometry.

X-linked adrenoleukodystrophy: A case of acute childhood cerebral presentation.

Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients.

Endocrine dysfunction in adrenoleukodystrophy.

X-Linked Adrenoleukodystrophy or the Management of Rare Diseases in the General Practice.

Peroxisomal ABC Transporters: An Update.

The structural basis of fatty acid elongation by the ELOVL elongases.

Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan.

A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.

Showing 1-12 of 26

Last Updated : 06/20/2022