Results 101 to 110 of about 14,971 (151)

Primary adrenal insufficiency resulting in diagnosis of rare <i>ABCD1</i> pathogenic variant in X-linked adrenoleukodystrophy. [PDF]

JCEM Case Rep
Jin A, Bhatnagar A, Bryant A, Soe K.
europepmc   +1 more source

Cerebello-Brainstem Dominant Form of X-linked Adrenoleukodystrophy Without Apparent Brain MRI Abnormalities at Disease Onset. [PDF]

Cerebellum
Nakagawa Y, Sugiyama A, Shibuya K, Yokota H, Matsukawa T, Ishiwata K, Mori M.   +6 more
europepmc   +1 more source

X-linked adrenoleukodystrophy as an etiological cause of progressive spastic paraplegia: A case report. [PDF]

J Int Med Res
Chang MC, Yang S.
europepmc   +1 more source

Bálint syndrome as the presenting manifestation of adrenoleukodystrophy

Neurology Perspectives, 2023
R. Ghosh, M. León-Ruiz, K. Bole, S. Bandyopadhyay, S. Dubey, J. Benito-León   +5 more
doaj   +1 more source

Reversal of Endogenous Bioelectrical Network Collapse in Advanced Childhood Cerebral X-Linked Adrenoleukodystrophy. [PDF]

Neurol Int
Rinaldi S, Rinaldi A, Fontani V.
europepmc   +1 more source

Optic nerve demyelination as the presenting feature of adrenoleukodystrophy in a child

Indian Journal of Ophthalmology, 2022
Nirupama Kasturi, Sandip Sarkar, Tanmay Gokhale, Chinnaiah G Delhikumar, Midhusha R Vendoti   +4 more
doaj   +1 more source

Adrenoleukodystrophy in adults: phenotypic characterisation and natural history in a large cohort. [PDF]

J Neurol Neurosurg Psychiatry
Benzoni C, Moscatelli M, Lanteri P, Pensato V, Calò C, Allievi S, Gellera C, Ardissone A, Moroni I, Fenu S, Cavalca E, Pareyson D, Salsano E.   +12 more
europepmc   +1 more source

Blood Neurofilament Light Chain and Glial Fibrillary Acidic Protein as Candidate Biomarkers in <i>CSF1R</i>-Related Disorder. [PDF]

Neurol Genet
Ayrignac X, Marelli C, Lehmann S, Huiban C, Yska HAF, Labauge P, Le Ber I, Mochel F.   +7 more
europepmc   +1 more source

X-linked adrenoleukodystrophy; Recent Advances in Classification, Diagnosis and Management

, 2017
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ATP binding cassette subfamily D member 1 (ABCD1), a gene that encodes peroxisomal membrane located on ABC half-transporter named adrenoleukodystrophy protein (ALDP).
고아라, 정을식, 강훈철
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Adrenomyeoloneuropathy, X-linked adrenoleukodystrophy phenotype. A Case Report

, 2018
Introduction: Adrenomyeoloneuropathy is a peroxisomal disease with a sex-linked pattern of inheritance. It is a phenotypic variety of X-linked adrenoleukodystrophy; this last one is also a cause of adrenal insufficiency.
Alberto Juan Dorta-Contreras, Daisy Wainshtok-Tomás, Cristóbal González-Losada   +2 more
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