Associated Papers
Clinical, biochemical & molecular spectrum of adrenoleukodystrophy: A single centre experience.
Kumar S et al.
The Indian Journal of Medical Research, 2025
41100649 (PubMed )
Supplement: IJMR-162-2-237-ST.pdf
Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.
Dong B et al.
International Journal of Endocrinology, 2022
Argentinian clinical genomics in a leukodystrophies and genetic leukoencephalopathies cohort: Diagnostic yield in our first 9 years.
Cohen L et al.
Annals of Human Genetics, 2020
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Phenotype prediction of non-synonymous single-nucleotide polymorphisms in human ATP-binding cassette transporter genes.
Wang LL et al.
Basic & Clinical Pharmacology & Toxicology, 2011
Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
Ferdinandusse S et al.
Nature Genetics, 2000
X-linked adrenoleukodystrophy: genes, mutations, and phenotypes.
Smith KD et al.
Neurochemical Research, 1999
Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings.
Korenke GC et al.
European Journal of Endocrinology, 1997
Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathy.
Krasemann EW et al.
Human Genetics, 1996
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