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1 improved TPP1 variants for treatment of late infantile neuronal ceroid lipofuscinosis.
2 MPSIIIB, MPSVII, Niemann-Pick type A/B, and infantile neuronal ceroid lipofuscinosis.
3 n TPP I are associated with the classic late infantile neuronal ceroid lipofuscinosis.
4 nzyme defective in the human disorder called infantile neuronal ceroid lipofuscinosis.
5 a severe neurodegenerative storage disorder, infantile neuronal ceroid lipofuscinosis.
6 e fatal inherited neurodegenerative disorder infantile neuronal ceroid lipofuscinosis.
7 neurological disorder prevalent in Finland, infantile neuronal ceroid lipofuscinosis.
8 n immortalized lymphoblasts of patients with infantile neuronal ceroid lipofuscinosis.
9 ereditary neurological degenerative disorder infantile neuronal ceroid lipofuscinosis.
10 ch result in the neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis.
11 LN2 disease, late infantile (or classic late infantile neuronal ceroid lipofuscinosis), a paediatric
12 ound to cause the neurodegenerative disorder infantile neuronal ceroid lipofuscinosis, a disease char
14 humans causes a neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis (also known as
16 ompared with the reported natural history of infantile neuronal ceroid lipofuscinosis and that of aff
17 e the hereditary neurodegenerative disorder, infantile neuronal ceroid lipofuscinosis, and lipid thio
20 the neurodegenerative lysosomal disease late-infantile neuronal ceroid lipofuscinosis (CLN2 disease).
24 prosegment with the introduced classic late infantile neuronal ceroid lipofuscinosis disease-associa
25 al hereditary neurodegenerative disease late infantile neuronal ceroid lipofuscinosis encodes a lysos
36 nactivating mutations in the PPT1 gene cause infantile neuronal ceroid lipofuscinosis (INCL), a devas
39 y reported mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a sever
40 mitoyl-protein thioesterase (PPT) gene cause infantile neuronal ceroid lipofuscinosis (INCL), the cli
46 thioesterase is a lysosomal enzyme and that infantile neuronal ceroid lipofuscinosis is properly cla
49 ns in the CLN2 gene result in classical late infantile neuronal ceroid lipofuscinosis (LINCL), a fata
55 une 30, 2012, we recruited ten children with infantile neuronal ceroid lipofuscinosis; one child was
56 port of the natural history of patients with infantile neuronal ceroid lipofuscinosis provides a guid
57 tion of the novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis that we have ge
59 neurologic features typical for variant late-infantile neuronal ceroid lipofuscinosis (vLINCL), a sev
60 ve recently been shown to be responsible for infantile neuronal ceroid lipofuscinosis, which is a sev
61 ren between 6 months and 3 years of age with infantile neuronal ceroid lipofuscinosis with any two of
62 quences for the CLN2 gene implicated in late infantile neuronal ceroid lipofuscinosis with iodine-124
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