Customize your search results with filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated : 06/20/2022

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 26 publications

Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.

Journal: Cells
Published: December 24, 2021
View publication
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
View publication
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
View publication
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
View publication
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
View publication
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
View publication
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
View publication
Summary: Endocrine dysfunction in adrenoleukodystrophy.

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

Journal: Praxis
Published: July 07, 2021
View publication
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
View publication
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
View publication
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
View publication
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
View publication
Summary: 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