Neuronal Ceroid Lipofuscinoses Presenting as Rett-like Phenotype: A Two-Case Report From Thailand
Author:
Funder
Chulalongkorn University
Health Systems Research Institute
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference13 articles.
1. The neuronal ceroid-lipofuscinoses: from past to present;Haltia;Biochim Biophys Acta,2006
2. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease;Mole,2020
3. Presidential address: studies in the neuronal ceroid lipofuscinoses;Zeman;J Neuropathol Exp Neurol,1974
4. Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease;Specchio;Epilepsia,2017
5. Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs;Craiu;Eur J Paediatr Neurol,2015
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