Results 111 to 120 of about 7,333,851 (157)

Molecular mechanism of substrate transport by human peroxisomal ABCD3. [PDF]

Proc Natl Acad Sci U S A
Gupta M, Khandelwal NK, Seka DJ, Balasubramani SG, Dickinson MS, Myasnikov A, Echeverria I, Stroud RM.   +7 more
europepmc   +1 more source

X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling. [PDF]

Balkan J Med Genet
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N.   +7 more
europepmc   +1 more source

CSF and plasma neuro-biomarker dynamics after gene therapy for cerebral adrenoleukodystrophy. [PDF]

Mol Ther Adv
Lund TC, Gupta AO, Kemp S, Loes DJ, Nascene DR, Orchard PJ.   +5 more
europepmc   +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

Twenty years of misdiagnosis of X-linked adrenoleukodystrophy: a case report. [PDF]

Am J Transl Res
Xia D, Fu X, Meng Y, Yang C, Wang W, Wang Z.   +5 more
europepmc   +1 more source

A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms. [PDF]

NPJ Genom Med
Chapleau A, Perrier S, Durcan TM, Bernard G.   +3 more
europepmc   +1 more source

Revisiting the Pathogenesis of X-Linked Adrenoleukodystrophy. [PDF]

Genes (Basel)
Bougnères P, Le Stunff C.
europepmc   +1 more source

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Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

Journal of Pediatric Endocrinology and Metabolism, 2019
Background X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families.
Babak Emamalizadeh, Yousef Daneshmandpour, Abbas Tafakhori   +2 more
exaly   +4 more sources

Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.

Pediatric Neurology, 2014
X-linked adrenomyeloneuropathy (X-AMN) is a genetic disorder that primarily affects the adrenal cortex and the nervous system. The disease shows a wide range of phenotypic expression, age of onset, and rate of progression.We present a thalassemic 23-year-old man with X-AMN and multiple endocrine disorders.
P. Triantafyllou, M. Economou, E. Vlachaki, M. Aggelaki, Miranta Athanassiou-Mataxa, E. Michelakaki, D. Zafeiriou   +6 more
semanticscholar   +3 more sources