Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's Oil
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چکیده
منابع مشابه
Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo’s Oil
X-Linked adrenoleukodystrophy (X-ALD) is a hereditary disorder of the peroxisomal metabolism biochemically characterized by the accumulation of very long chain fatty acids (VLCFA) in tissues and biological fluids. The major accumulated acids are hexacosanoic acid (C26:0) and tetracosanoic acid (C24:0). The disorder is characterized clinically by central and peripheral demyelination and adrenal ...
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چکیده ندارد.
Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy
UNLABELLED In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential effect of geographical origin in clinical characteristics. METHODS X- ALD patients from Brazil, Argentina and Uruguay were invited to participate in molecular...
متن کاملX-linked adrenoleukodystrophy: clinical, biochemical and pathogenetic aspects.
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. The principal molecular defect is due to inborn mutations in the ABCD1 gene encoding the adrenoleukodystrophy protein (ALDP), a transporter in the peroxisome membran...
متن کاملBiochemical Diagnosis of Peroxisomal Disorders by GC/MS: Egyptian Patients with X-linked Adrenoleukodystrophy
Background: Peroxisomes are organelles responsible mainly for metabolism of lipids and peroxides. Lack of peroxisomes or dysfunction in any of their normal functions is the cellular basis for human peroxisomal disorders (PDs). Aim of the Work: diagnosis of peroxisomal disorders among a high risk group of Egyptian patients using gas chromatography mass spectrometry. Subjects and Methods: Forty s...
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ژورنال
عنوان ژورنال: Genetics and Molecular Biology
سال: 2000
ISSN: 1415-4757
DOI: 10.1590/s1415-47572000000400001