'Atypical' Phenotypes of Neuronal Ceroid Lipofuscinosis: The Argentine Experience in the Genomic Era

Authors: Favio Pesaola, Guillermo Guelbert, Ana Clara Venier, Inés Adriana Cismondi, Adriana Becerra, Juan Carlos G. Vazquez, Elmer Fernandez, Ana Lucia De Paul, Norberto Guelbert, Inés Noher

Source: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

Subject Terms: Neuronal CeroidLipofuscinosis, Genomics, CLN1, CLN2, CLN8, Atypical Phenotypes, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100308&tlng=en; https://doaj.org/toc/2326-4594

Access URL: https://doaj.org/article/98139ce7c9a94aa784ae9d56f4a1dc8c