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

Berkmis Viana SantosJosiane de SouzaMichelle Silva ZenyMara Lúcia Schmitz Ferreira SantosDaniel Almeida do Valle

Published in: Neuropediatrics (2024)

Novel mutations identified in the patients in this study showed phenotypes of rapid and severe progression in the CLN2 patient and similar characteristics in CLN6 and CLN7 patients, as previously described in the literature.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
young adults
patient reported outcomes
patient reported