On the clinical picture and diagnosis of rare neurological diseases
<p> 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 accu...
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| Format: | Article |
| Language: | Russian |
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Saratov State Medical University
2018-03-01
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| Series: | Саратовский научно-медицинский журнал |
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| Online Access: | http://www.ssmj.ru/system/files/2018_01-1_174-177.pdf |
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doaj-de34e53be1e14b7b90de79b8158deef32021-07-02T14:47:56ZrusSaratov State Medical UniversityСаратовский научно-медицинский журнал2076-25182018-03-011411741775001On the clinical picture and diagnosis of rare neurological diseasesUlyanova O.V.0Kutashov V.A.1Brezhneva N.V.2Voronezh State Medical AcademyVoronezh State Medical AcademyVoronezh State Medical Academy<p> 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.</p>http://www.ssmj.ru/system/files/2018_01-1_174-177.pdfchildrenfatty acids with a very long chaingenetic diseaseheredityX-linked adrenoleukodystrophy |
| collection |
DOAJ |
| language |
Russian |
| format |
Article |
| sources |
DOAJ |
| author |
Ulyanova O.V. Kutashov V.A. Brezhneva N.V. |
| spellingShingle |
Ulyanova O.V. Kutashov V.A. Brezhneva N.V. On the clinical picture and diagnosis of rare neurological diseases Саратовский научно-медицинский журнал children fatty acids with a very long chain genetic disease heredity X-linked adrenoleukodystrophy |
| author_facet |
Ulyanova O.V. Kutashov V.A. Brezhneva N.V. |
| author_sort |
Ulyanova O.V. |
| title |
On the clinical picture and diagnosis of rare neurological diseases |
| title_short |
On the clinical picture and diagnosis of rare neurological diseases |
| title_full |
On the clinical picture and diagnosis of rare neurological diseases |
| title_fullStr |
On the clinical picture and diagnosis of rare neurological diseases |
| title_full_unstemmed |
On the clinical picture and diagnosis of rare neurological diseases |
| title_sort |
on the clinical picture and diagnosis of rare neurological diseases |
| publisher |
Saratov State Medical University |
| series |
Саратовский научно-медицинский журнал |
| issn |
2076-2518 |
| publishDate |
2018-03-01 |
| description |
<p> 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.</p> |
| topic |
children fatty acids with a very long chain genetic disease heredity X-linked adrenoleukodystrophy |
| url |
http://www.ssmj.ru/system/files/2018_01-1_174-177.pdf |
| work_keys_str_mv |
AT ulyanovaov ontheclinicalpictureanddiagnosisofrareneurologicaldiseases AT kutashovva ontheclinicalpictureanddiagnosisofrareneurologicaldiseases AT brezhnevanv ontheclinicalpictureanddiagnosisofrareneurologicaldiseases |
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1721327756873039872 |