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Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.

Neuropediatrics - 1 Oct 2024

Santos Berkmis Viana, de Souza Josiane, Zeny Michelle Silva, Santos Mara Lúcia Schmitz Ferreira, do Valle Daniel Almeida

Abstract excerpt

INTRODUCTION: Neuronal ceroid lipofuscinoses (CLNs) are a group of lysosomal storage disorders of genetic origin, characterized by progressive neurodegeneration and intracellular accumulation of autofluorescent lipopigment. Thirteen genes related to CLNs are currently described, showing genetic and allelic heterogeneity, most of them with an autosomal recessive pattern. Due to the few descriptions of cases...

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PMID: 38857616
DOI: 10.1055/s-0044-1787706

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