On the clinical picture and diagnosis of rare neurological diseases
Автор: Ulyanova O.V., Kutashov V.A., Brezhneva N.V.
Журнал: Саратовский научно-медицинский журнал @ssmj
Рубрика: Неврология
Статья в выпуске: 1 т.14, 2018 года.
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The article presents clinical observation of patient H, 2007 year of birth., with X-linked adrenoleukodystrophy (X-ALD). This is a rare hereditary metabolic disease, not only in Russia but also worldwide. It belongs to the group of peroxisomal diseases, is associated with the accumulation of fatty acids with a very long chain and is characterized by a combined lesion of the nervous system and adrenal glands. X-ALD in neurology and Pediatrics require a targeted individual approach to each patient, genetic tests in relatives and prenatal diagnosis among patients at risk.
Genetic disease, children, fatty acids with a very long chain, heredity, x-linked adrenoleukodystrophy
Короткий адрес: https://sciup.org/149135057
IDR: 149135057