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- Title
Erişkin Başlangılı Metakromatik L¿kodistrofi: İki Olgu.
- Authors
Eryaşar, Gaye; Beckmann, Yeşim; Seçil, Yaprak
- Abstract
Metachromatic leukodystrophy is a lysosomal storage disorder characterized with arylsulfatase A deficiency. Enzyme deficiency results with demyelination and storage of sulfatides in the central nervous system. According to onset age, the disease has three major clinical forms, as late infantile, juvenile and adult. It is a rare disorder. For the patients who do not develop neurological findings, bone marrow or hematopoietic stem cell transplantation may be effective as treatment.
- Subjects
GENETIC disorder diagnosis; NEURORADIOLOGY; GENETIC disorders; LIPID metabolism disorders; LYSOSOMAL storage diseases; SYMPTOMS; DIAGNOSIS
- Publication
Turkish Journal of Neurology / Turk Noroloji Dergisi, 2011, Vol 17, Issue 4, p195
- ISSN
1301-062X
- Publication type
Article