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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Saratov State Medical University
2018-03-01
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| Series: | Саратовский научно-медицинский журнал |
| Subjects: | |
| Online Access: | http://www.ssmj.ru/system/files/2018_01-1_174-177.pdf |
| _version_ | 1818622044892299264 |
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| author | Ulyanova O.V. Kutashov V.A. Brezhneva N.V. |
| author_facet | Ulyanova O.V. Kutashov V.A. Brezhneva N.V. |
| author_sort | Ulyanova O.V. |
| collection | DOAJ |
| 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> |
| first_indexed | 2024-12-16T18:18:55Z |
| format | Article |
| id | doaj.art-de34e53be1e14b7b90de79b8158deef3 |
| institution | Directory Open Access Journal |
| issn | 2076-2518 |
| language | Russian |
| last_indexed | 2024-12-16T18:18:55Z |
| publishDate | 2018-03-01 |
| publisher | Saratov State Medical University |
| record_format | Article |
| series | Саратовский научно-медицинский журнал |
| spelling | doaj.art-de34e53be1e14b7b90de79b8158deef32022-12-21T22:21:37ZrusSaratov 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 |
| 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 |
| title | 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_short | On the clinical picture and diagnosis of rare neurological diseases |
| title_sort | on the clinical picture and diagnosis of rare neurological diseases |
| 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 |