共 50 条
- [31] Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations Graefe's Archive for Clinical and Experimental Ophthalmology, 2015, 253 : 1245 - 1250
- [32] Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging neurogenetics, 2009, 10 : 307 - 311
- [34] Case 27-2002: Late-onset infantile neuronal ceroid lipofuscinosis NEW ENGLAND JOURNAL OF MEDICINE, 2003, 348 (21): : 2159 - 2159
- [40] A Case with Neonatal-onset Type 2 Neuronal Ceroid Lipofuscinosis: A Novel Mutation JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, 2020, 30 (05): : 543 - 544