Neuronal Ceroid Lipofuscinosis Type 2: A Case Series from Argentina
Author:
Affiliation:
1. Hospital de Niños de la Santísima Trinidad, Argentina
Publisher
FapUNIFESP (SciELO)
Subject
Genetics (clinical),Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Link
http://www.scielo.br/scielo.php?script=sci_pdf&pid=S2326-45942022000100304&tlng=en
Reference15 articles.
1. Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis;Fietz M;Mol Genet Metab,2016
2. Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses;Mukherjee AB;Mol Neurodegener,2019
3. Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients;Pérez-Poyato MS;J Child Neurol,2013
4. An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients;Kohan R;Clin Genet,2009
5. Management strategies for CLN2 disease;Williams RE;Pediatr Neurol,2017
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