Adult-Onset Metachromatic Leukodystrophy: Two Cases
Metachromatic Leukodystrophy(MLD) is a lisosomal storage disorder which is characterized with arylsulphatase A deficiency. Enzyme deficiency results with demiyelination and storage of sulphatides in central nervous system.According to onset age;the disease has three major clinical forms as late infa...
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| Format: | Article |
| Language: | English |
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Galenos Yayinevi
2011-12-01
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| Series: | Türk Nöroloji Dergisi |
| Subjects: | |
| Online Access: | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-07769&look4= |
| _version_ | 1797910819373056000 |
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| author | Gaye Eryaşar Yeşim Beckmann Yaprak Seçil |
| author_facet | Gaye Eryaşar Yeşim Beckmann Yaprak Seçil |
| author_sort | Gaye Eryaşar |
| collection | DOAJ |
| description | Metachromatic Leukodystrophy(MLD) is a lisosomal storage disorder which is characterized with arylsulphatase A deficiency. Enzyme deficiency results with demiyelination and storage of sulphatides in central nervous system.According to onset age;the disease has three major clinical forms as late infantile,juvenile and adult form. It is a rare disorder. For the patients who did not develop neurological findings bone marrow or hematopoietic stem cell transplantation may be effective as treatment. |
| first_indexed | 2024-04-10T11:30:31Z |
| format | Article |
| id | doaj.art-0c7064403710401d864499f722dfed3d |
| institution | Directory Open Access Journal |
| issn | 1301-062X |
| language | English |
| last_indexed | 2024-04-10T11:30:31Z |
| publishDate | 2011-12-01 |
| publisher | Galenos Yayinevi |
| record_format | Article |
| series | Türk Nöroloji Dergisi |
| spelling | doaj.art-0c7064403710401d864499f722dfed3d2023-02-15T16:18:06ZengGalenos YayineviTürk Nöroloji Dergisi1301-062X2011-12-01174195199Adult-Onset Metachromatic Leukodystrophy: Two CasesGaye Eryaşar0Yeşim Beckmann1Yaprak Seçil2Izmir Atatürk Training And Research Hospital 1 Neurology DepartmentIzmir Atatürk Training And Research Hospital 1 Neurology DepartmentIzmir Atatürk Training And Research Hospital 1 Neurology DepartmentMetachromatic Leukodystrophy(MLD) is a lisosomal storage disorder which is characterized with arylsulphatase A deficiency. Enzyme deficiency results with demiyelination and storage of sulphatides in central nervous system.According to onset age;the disease has three major clinical forms as late infantile,juvenile and adult form. It is a rare disorder. For the patients who did not develop neurological findings bone marrow or hematopoietic stem cell transplantation may be effective as treatment.http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-07769&look4=Leukodystrophymetachromatic |
| spellingShingle | Gaye Eryaşar Yeşim Beckmann Yaprak Seçil Adult-Onset Metachromatic Leukodystrophy: Two Cases Türk Nöroloji Dergisi Leukodystrophy metachromatic |
| title | Adult-Onset Metachromatic Leukodystrophy: Two Cases |
| title_full | Adult-Onset Metachromatic Leukodystrophy: Two Cases |
| title_fullStr | Adult-Onset Metachromatic Leukodystrophy: Two Cases |
| title_full_unstemmed | Adult-Onset Metachromatic Leukodystrophy: Two Cases |
| title_short | Adult-Onset Metachromatic Leukodystrophy: Two Cases |
| title_sort | adult onset metachromatic leukodystrophy two cases |
| topic | Leukodystrophy metachromatic |
| url | http://www.tjn.org.tr/jvi.aspx?pdir=tjn&plng=eng&un=TJN-07769&look4= |
| work_keys_str_mv | AT gayeeryasar adultonsetmetachromaticleukodystrophytwocases AT yesimbeckmann adultonsetmetachromaticleukodystrophytwocases AT yapraksecil adultonsetmetachromaticleukodystrophytwocases |