Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives

Metachromatic leukodystrophy (MLD) is a glycosphingolipid storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A (ASA) or its activator protein saposin B. MLD can affect all age groups in severity varying from a severe fatal form to milder adult onset forms. Diagnosis is usuall...

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Salvato in:
Dettagli Bibliografici
Pubblicato in:Mol Genet Metab Rep
Autori principali: Pekgül, Faruk, Eroğlu-Ertuğrul, Nesibe Gevher, Bekircan-Kurt, Can Ebru, Erdem-Ozdamar, Sevim, Çetinkaya, Arda, Tan, Ersin, Konuşkan, Bahadır, Karaağaoğlu, Ergun, Topçu, Meral, Akarsu, Nurten Ayşe, Oguz, Kader K., Anlar, Banu, Özkara, Hatice Asuman
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2020
Soggetti:
Research Paper
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7734308/
https://ncbi.nlm.nih.gov/pubmed/33335837
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100688
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