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7. First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. de Vries BB; Kleijer WJ; Keulemans JL; Voznyi YV; Franken PF; Eurlings MC; Galjaard RJ; Losekoot M; Catsman-Berrevoets CE; Breuning MH; Taschner PE; van Diggelen OP Prenat Diagn; 1999 Jun; 19(6):559-62. PubMed ID: 10416973 [TBL] [Abstract][Full Text] [Related]
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13. High-resolution magic angle spinning and 1H magnetic resonance spectroscopy reveal significantly altered neuronal metabolite profiles in CLN1 but not in CLN3. Sitter B; Autti T; Tyynelä J; Sonnewald U; Bathen TF; Puranen J; Santavuori P; Haltia MJ; Paetau A; Polvikoski T; Gribbestad IS; Häkkinen AM J Neurosci Res; 2004 Sep; 77(5):762-9. PubMed ID: 15352223 [TBL] [Abstract][Full Text] [Related]
14. Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. Simonati A; Tessa A; Bernardina BD; Biancheri R; Veneselli E; Tozzi G; Bonsignore M; Grosso S; Piemonte F; Santorelli FM Pediatr Neurol; 2009 Apr; 40(4):271-6. PubMed ID: 19302939 [TBL] [Abstract][Full Text] [Related]
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