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- W2155207890 endingPage "362" @default.
- W2155207890 startingPage "351" @default.
- W2155207890 abstract "The neuronal ceroid lipofuscinoses (NCL) are a group of rare genetically inherited neurodegenerative disorders in children. These diseases are classified by age of onset (congenital, infantile, late-infantile, juvenile and adult-onset) and by the gene bearing mutations (CLN10/CTSD, CLN1/PPT1, CLN2/TPP1, CLN3, CLN5, CLN6, CLN7/MFSD8 and CLN8). Enzyme activity assays are helpful in identifying several of these disorders; however confirmation of the mutation in the gene causing these diseases is vital for definitive diagnosis. There exists considerable heterogeneity in the NCLs as a whole and within each type of NCL both in phenotype (disease manifestation and progression) and genotype (type of mutation), which complicates NCL diagnosis. In order to streamline the diagnostic process, the age of symptom onset, geography and/or ethnicity, and enzyme activity may be considered together. However, these ultimately serve to guide targeting the correct route to genetic confirmation of an NCL through mutational analysis. Herein, an effective protocol to diagnose NCLs using these criteria is presented." @default.
- W2155207890 created "2016-06-24" @default.
- W2155207890 creator A5053038397 @default.
- W2155207890 creator A5057866558 @default.
- W2155207890 creator A5063814974 @default.
- W2155207890 date "2007-11-01" @default.
- W2155207890 modified "2023-09-27" @default.
- W2155207890 title "Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies" @default.
- W2155207890 cites W1503369988 @default.
- W2155207890 cites W1546743612 @default.
- W2155207890 cites W1555972529 @default.
- W2155207890 cites W1597077894 @default.
- W2155207890 cites W1771776899 @default.
- W2155207890 cites W1884093662 @default.
- W2155207890 cites W1889762023 @default.
- W2155207890 cites W189736520 @default.
- W2155207890 cites W1963819382 @default.
- W2155207890 cites W1969997927 @default.
- W2155207890 cites W1970047246 @default.
- W2155207890 cites W1972531087 @default.
- W2155207890 cites W1972703191 @default.
- W2155207890 cites W1973850417 @default.
- W2155207890 cites W1976543920 @default.
- W2155207890 cites W1976935963 @default.
- W2155207890 cites W1978960907 @default.
- W2155207890 cites W1979216037 @default.
- W2155207890 cites W1982574240 @default.
- W2155207890 cites W1983676572 @default.
- W2155207890 cites W1984927769 @default.
- W2155207890 cites W1986176147 @default.
- W2155207890 cites W1986243401 @default.
- W2155207890 cites W1987899420 @default.
- W2155207890 cites W1988276998 @default.
- W2155207890 cites W1988358599 @default.
- W2155207890 cites W1994263020 @default.
- W2155207890 cites W1995411277 @default.
- W2155207890 cites W1998735382 @default.
- W2155207890 cites W2001289527 @default.
- W2155207890 cites W2002999105 @default.
- W2155207890 cites W2003671736 @default.
- W2155207890 cites W2004000104 @default.
- W2155207890 cites W2005144914 @default.
- W2155207890 cites W2005597116 @default.
- W2155207890 cites W2007071486 @default.
- W2155207890 cites W2010126457 @default.
- W2155207890 cites W2011523966 @default.
- W2155207890 cites W2011933633 @default.
- W2155207890 cites W2011950472 @default.
- W2155207890 cites W2015100443 @default.
- W2155207890 cites W2019091774 @default.
- W2155207890 cites W2019851037 @default.
- W2155207890 cites W2020278806 @default.
- W2155207890 cites W2020543149 @default.
- W2155207890 cites W2021732663 @default.
- W2155207890 cites W2023512898 @default.
- W2155207890 cites W2025567211 @default.
- W2155207890 cites W2026713745 @default.
- W2155207890 cites W2029509452 @default.
- W2155207890 cites W2030193586 @default.
- W2155207890 cites W2037541555 @default.
- W2155207890 cites W2041057649 @default.
- W2155207890 cites W2042182494 @default.
- W2155207890 cites W2042367146 @default.
- W2155207890 cites W2043802584 @default.
- W2155207890 cites W2043946447 @default.
- W2155207890 cites W2046746170 @default.
- W2155207890 cites W2052060433 @default.
- W2155207890 cites W2052335394 @default.
- W2155207890 cites W2053883635 @default.
- W2155207890 cites W2057762366 @default.
- W2155207890 cites W2058845277 @default.
- W2155207890 cites W2059092093 @default.
- W2155207890 cites W2061241061 @default.
- W2155207890 cites W2063916497 @default.
- W2155207890 cites W2064404471 @default.
- W2155207890 cites W2065518232 @default.
- W2155207890 cites W2069570392 @default.
- W2155207890 cites W2069928631 @default.
- W2155207890 cites W2069988696 @default.
- W2155207890 cites W2073180852 @default.
- W2155207890 cites W2073924233 @default.
- W2155207890 cites W2076265503 @default.
- W2155207890 cites W2077399711 @default.
- W2155207890 cites W2077753472 @default.
- W2155207890 cites W2077809468 @default.
- W2155207890 cites W2082236966 @default.
- W2155207890 cites W2082851732 @default.
- W2155207890 cites W2087346067 @default.
- W2155207890 cites W2087793114 @default.
- W2155207890 cites W2088234686 @default.
- W2155207890 cites W2093261118 @default.
- W2155207890 cites W2093782973 @default.
- W2155207890 cites W2100143246 @default.
- W2155207890 cites W2102027209 @default.
- W2155207890 cites W2102979497 @default.
- W2155207890 cites W2108686581 @default.
- W2155207890 cites W2110574733 @default.
- W2155207890 cites W2118022730 @default.