Results 91 to 100 of about 1,386 (146)

Molecular basis of X-linked adrenoleukodystrophy: phenotypic variability and skewed X inactivation in heterozygous females [PDF]

, 2014
X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disorder caused by mutations in the ABCD1 gene which codes for an ATP binding cassette transporter.
Veselková, Tereza
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X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling

Balkan Journal of Medical Genetics
X-linked adrenoleukodystrophy (X-ALD) is a fatal neurodegenerative disorder caused by mutations in the adenosine triphosphate-binding cassette D1 (ABCD1) gene. In this study, we report the case of a Moroccan patient diagnosed with X-ALD due to a mutation
Mansouri M, Smol T, Louhabe N, Rama M, Rada N, Fdil N, Bouskraoui M, Aboussair N   +7 more
doaj   +1 more source

X-linked adrenoleukodystrophy: genes, mutations, and phenotypes

, 1999
X-linked adrenoleukodystrophy (X-ALD) is a complex and perplexing neurodegenerative disorder. The metabolic abnormality, elevated levels of very long-chain fatty acids in tissues and plasma, and the biochemical defect, reduced peroxisomal very long-chain
Kemp, S., Pevsner, J., Wei, H. M., Smith, K. D., Lu, J. F., Geraghty, M., Stetten, G., Bergin, J. S., Watkins, P. A., Braiterman, L. T.   +9 more
core   +1 more source

A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy

, 2019
OBJECTIVES: X-linked adrenoleukodystrophy(X-ALD) is a rare X-linked recessive metabolic disorder. The mutations in the ATP Binding Cassette Subfamily D Member 1 (ABCD1) gene account for the underlying molecular mechanism.
Sarer Yurekli, Banu, Ozdemir Kutbay, Nilufer, DEMİRBİLEK, HÜSEYİN, Ozbek, Mehmet Nuri   +3 more
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Delay in diagnosis of X-linked adrenoleukodystrophy

, 1993
In 16 consecutive patients with clinically suspected and biochemically proven X-linked adrenoleukodystrophy (X-ALD), total delay (interval between onset of symptoms and diagnosis) and specialist delay (interval between referral to a specialist and ...
Schutgens, R. B., Barth, P. G., Keyser, A., Assies, J., van Geel, B. M., Zwetsloot, C. P., Haverkort, E. B., Wanders, R. J.   +7 more
core   +1 more source

Isolated cerebellar involvement in X-linked adrenoleukodystrophy

Annals of Indian Academy of Neurology, 2020
C A Mansoor
doaj   +1 more source

Reversal of Endogenous Bioelectrical Network Collapse in Advanced Childhood Cerebral X-Linked Adrenoleukodystrophy

Neurology International
Background/Objectives: Advanced childhood cerebral X-linked adrenoleukodystrophy (cALD) is traditionally regarded as an irreversible terminal phase of neurodegeneration driven by inflammatory demyelination and axonal loss. Experimental evidence indicates
Salvatore Rinaldi, Arianna Rinaldi, Vania Fontani   +2 more
doaj   +1 more source

X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects

, 2006
X-linked adrenoleukodystrophy (X-ALD) is a clinically heterogeneous disorder ranging from the severe childhood cerebral form to asymptomatic persons. The overall incidence is 1:16,800 including hemizygotes as well as heterozygotes.
Berger, Johannes, Gärtner, Jutta
core   +1 more source

X-linked adrenoleukodystrophy

, 2020
null Woongsoon J. Choi, DO, null Alvin C. Camacho, MD, null Nga T. Nguyen, null Brian Wong   +3 more
  +4 more sources

RAPIDLY PROGRESSIVE CEREBRAL FORM OF X-LINKED ADRENOLEUKODYSTROPHY

, 2013
Dječja cerebralna X-vezana adrenoleukodistrofija brzoprogresivna je bolest, uzrokovana ekstenzivnom upalnom demijelinizacijom središnjeg živčanog sustava.
Đaković, Ivana, Mejaški Bošnjak, Vlatka, Boban Raguž, Ana   +2 more
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