M Muranjan S Karande S Sankhe S Eichler
10.4103/jpgm.JPGM_349_17
J Postgrad Med
2018 Jan-Mar;64(1):59-63.
CC BY-NC-SA
https://pubmed.ncbi.nlm.nih.gov/29386416/
Adrenal Insufficiency / etiology Adrenoleukodystrophy / diagnosis Adrenoleukodystrophy / genetics Brain / pathology Mutation, Missense / genetics
Adrenal Insufficiency / etiology Adrenoleukodystrophy / diagnosis Adrenoleukodystrophy / genetics Brain / pathology Mutation, Missense / genetics Case Reports ATP Binding Cassette Transporter, Subfamily D, Member 1 Adrenal Insufficiency / genetics Adrenocorticotropic Hormone / blood Child, Preschool Fatal Outcome Humans Magnetic Resonance Imaging Male Neuroimaging Treatment Outcome White Matter / diagnostic imaging ABCD1 protein, human ATP Binding Cassette Transporter, Subfamily D, Member 1 Adrenocorticotropic Hormone
PMC5820819
29386416
Childhood cerebral X-linked adrenoleukodystrophy with atypical neuroimaging abnormalities and a novel mutation
2018