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Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world

Charles M. Lourenco,Andre Pessoa,Carmen C. Mendes, Carolina Rivera-Nieto,Diane Vergara,Monica Troncoso,Emily Gardner, Francisca Mallorens,Lina Tavera, Luis A. Lizcano,Nora Atanacio,Norberto Guelbert,Norma Specola,Nury Mancilla,Carolina F. M. de Souza,Sara E. Mole

Journal of Paediatrics and Child Health（2021）

引用 12|浏览28
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关键词
Batten disease,late onset,mutation,seizure,TPP1 deficiency
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