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Adrenoleukodystrophy Latest Advances
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Last Updated : 06/20/2022
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Found 26 publications
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Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.
Journal:
Cells
Published:
December 24, 2021
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Summary:
Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Journal:
Genes
Published:
December 24, 2021
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Summary:
Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.
Adult-onset adrenoleukodystrophy presenting with status epilepticus and psychosis.
Journal:
BMJ case reports
Published:
December 01, 2021
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Summary:
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.
Journal:
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences
Published:
October 27, 2021
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Summary:
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.
Journal:
Andes pediatrica : revista Chilena de pediatria
Published:
October 15, 2021
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Summary:
X-linked adrenoleukodystrophy: A case of acute childhood cerebral presentation.
Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients.
Journal:
International journal of molecular sciences
Published:
August 27, 2021
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Summary:
Glycosphingolipids with Very Long-Chain Fatty Acids Accumulate in Fibroblasts from Adrenoleukodystrophy Patients.
Endocrine dysfunction in adrenoleukodystrophy.
Journal:
Handbook of clinical neurology
Published:
July 16, 2021
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Summary:
Endocrine dysfunction in adrenoleukodystrophy.
X-Linked Adrenoleukodystrophy or the Management of Rare Diseases in the General Practice.
Journal:
Praxis
Published:
July 07, 2021
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Summary:
X-Linked Adrenoleukodystrophy or the Management of Rare Diseases in the General Practice.
Peroxisomal ABC Transporters: An Update.
Journal:
International journal of molecular sciences
Published:
July 02, 2021
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Summary:
Peroxisomal ABC Transporters: An Update.
The structural basis of fatty acid elongation by the ELOVL elongases.
Journal:
Nature structural & molecular biology
Published:
June 12, 2021
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Summary:
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.
Journal:
Molecular genetics and metabolism
Published:
June 06, 2021
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Summary:
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.
Journal:
Genes
Published:
June 02, 2021
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Summary:
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.
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Last Updated : 06/20/2022