المؤلفون: R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig, A. Sanabria-Castro

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)

مصطلحات موضوعية: Neuronal ceroid lipofuscinosis, Batten disease, CNL6, Variant late infantile NCL, vLINCL, Lysosomal storage disease, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/149f6e5ef7d8453fbcc750d90deb2354

المؤلفون: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky

المصدر: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Neuronal ceroid lipofuscinosis, NCL, MFSD8, NCL7, Variant late-infantile NCL, Rett-like phenotype, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0669-7; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/0f53728ecd88490ca4c75bf9817ac9bf