Unusual early-onset and severe adrenomyeloneuropathy in women

Eur J Neurol. 2020 Nov;27(11):e73. doi: 10.1111/ene.14297. Epub 2020 Jun 4.

Authors

C Azar¹, D Cheillan², Y Nadjar¹

Affiliations

¹ Neurology Department, Reference Center for Lysosomal disease, Neuro-Genetics and Metabolism Unit, Pitié-Salpêtrière Hospital, Paris, France.
² Unité Maladies Héréditaires du Métabolisme, Service de Biochimie et Biologie Moléculaire Grand Est, Centre de Biologie et de Pathologie Est, Hospices Civils de Lyon, Lyon, France.

PMID: 32367612
DOI: 10.1111/ene.14297

No abstract available

Keywords: ABCD1; adrenomyeloneuropathy; severe; women; young.

Publication types

Letter
Comment

MeSH terms

ATP Binding Cassette Transporter, Subfamily D, Member 1 / genetics
Adrenoleukodystrophy* / diagnosis
Cohort Studies
Female
Heterozygote
Humans

Substances

ABCD1 protein, human
ATP Binding Cassette Transporter, Subfamily D, Member 1