REFERENCES
- Dyken P R. The neuronal ceroid-lipofuscinoses. J Child Neurol 1989; 4: 165–174
- Hofmann S L, Atashband A, Cho S K, Das A K, Gupta P, Lu J Y. Neuronal ceroid lipofuscinoses caused by defects in soluble lysosomal enzymes (CLN1 and CLN2). Curr Mol Med 2002; 2: 423–437
- Vesa J, Peltonen L. Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins. Curr Mol Med 2002; 2: 439–444
- Williams R E, Gottlob I, Lake B D, Goebel H H, Winchester B G, Wheeler R B. CLN2 classic late infantile NCL. The Neuronal Ceroid Lipofuscinoses (Batten Disease)., H H Goebel, S E Mole, B D Lake. IOS Press, Amsterdam 1999; 37–54
- Vines D, Warburton M J. Purification and characterisation of a tripeptidyl aminopeptidase I from rat spleen. Biochim Biophys Acta 1998; 1384: 233–242
- Veneselli E, Biancheri R, Buoni S, Fois A. Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis. Brain Dev 2001; 23: 306–311
- Caraballo R, Sologuestua A, Ruggieri V L, Monges S, Cersósimo R, Taratuto A L, et al. Clinical and electroencephalographic aspects of late infantile neuronal ceroid lipofuscinosis. Rev Neurol 2005; 3: 135–140
- Batman J B, Philippart M. Ocular features of the Hagberg-Santavuori syndrome. Am J Ophthalmol 1986; 102: 262–271
- Nardocci N, Verga M L, Binelli S, Zorzi G, Angelini L, Bugiani O. Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients. Am J Med Genet 1995; 57: 137–141
- Sharp J D, Wheeler R B, Lake B D, Savukoski M, Järvelä I E, Peltonen L, et al. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum Mol Genet 1997; 6: 591–595
- Sleat D E, Gin R M, Sohar I, Wisniewski K, Sklower-Brooks S, Pullarkat R K, et al. Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorders. Am J Hum Genet 1999; 64: 1511–1523
- Hartikainen J M, Ju W, Wisniewski K E, Moroziewicz D N, Kaczmarski A L, McLendon L, et al. Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. Mol Genet Metab 1999; 67: 162–168
- Sleat D E, Donnelly R J, Lackland H, Liu C G, Sohar I, Pullarkat R K, et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 1997; 277: 1802–1805
- Bessa C, Teixeira C A, Dias A, Alves M, Rocha S, Lacerda L, et al. CLN2/TPP1 deficiency: The novel mutation IVS7-10A > G causes intron retention and is associated with a mild disease phenotype. Mol Genet Metab 2008; 93: 66–67
- Steinfeld R, Heim P, Gregory H, Meyer K, Ullrich K, Goebel H H, et al. Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet 2002; 112: 347–354
- Steinfeld R, Steinke H B, Isbrandt D, Kohlschütter A, Gärtner A. Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. Hum Mol Genet 2004; 20: 2483–2491
- Yuza Y, Yokoi K, Sakurai K, Ariga M, Yanagisawa T, Ohashi T, et al. Allogenic bone marrow transplantation for late-infantile neuronal ceroid lipofuscinosis. Pediatr Int 2005; 47: 681–683