Neuronal ceroid lipofuscinosis type CLN2: A new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America

Tripeptidyl-peptidase 1 (TPP1) null or residual activity occurs in neuronal ceroid lipofuscinosis (NCL) with underlying TPP1/CLN2 mutations. A survey of 25 South American CLN2 affected individuals enabled the differentiation of two phenotypes: classical late-infantile and variant juvenile, each in a...

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Autori principali: Kohan, Romina, Noelia Carabelos, María, Xin, Winnie, Sims, Katherine, Guelbert, Norberto, Adriana Cismondi, Inés, Pons, Patricia, Alonso, Graciela Irene, Troncoso, Mónica, Witting, Scarlet, Pearce, David A., de Kremer, Raquel Dodelson, Oller-Ramírez, Ana María, de Halac, Inés Noher
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3855401/
https://ncbi.nlm.nih.gov/pubmed/23266810
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2012.12.058
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