Results 91 to 100 of about 7,234,150 (180)

Progress report on the cost-effectiveness of X-linked adrenoleukodystrophy newborn screening [PDF]

, 2017
This research was supported by the Undergraduate Research Opportunities Program (UROP).Parikh, Aditya; Miller, Weston. (2017). Progress report on the cost-effectiveness of X-linked adrenoleukodystrophy newborn screening.
Miller, Weston, Parikh, Aditya
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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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IDENTIFICATION OF GENETIC DEFECTS IN X-LINKED MENTAL RETARDATION [PDF]

, 2010
Backgrounds: X-linked mental retardation (XLMR) has been the focus of MR research because of 40% excess of males with MR. Genetic defects are estimated to account for 50% MR cases.
Fitri, Aditia Retno
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Isolated cerebellar involvement in X-linked adrenoleukodystrophy

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

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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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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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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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
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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
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Multimodal quantitative MRI finds early brain changes in asymptomatic X-linked adrenoleukodystrophy. [PDF]

Brain Commun
Meier K, Sahoo P, Marten LM, Gkalimani I, Helms G, Dechent P, Rosewich H, Dreha-Kulaczewski S, Gärtner J.   +8 more
europepmc   +1 more source