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pro vyhledávání: '"Danielle Peifer"'
Autor:
Joni A. Turunen, Ruth Williams, Margie Frazier, Emily de los Reyes, Kristen Drago, Minna Laine, Sharon King, Elaine C. Wirrell, Tanya Levin, Heather R. Adams, Angela Schulz, Alessandro Simonati, Jonathan W. Mink, Norberto Guelbert, Danielle Peifer, Meral Topçu, Erika F. Augustine, Miriam Nickel
Publikováno v:
Pediatric neurology. 120
Background: CLN1 disease (neuronal ceroid lipofuscinosis type 1) is a rare, genetic, neurodegenerative lysosomal storage disorder caused by palmitoyl-protein thioesterase 1 (PPT1) enzyme deficiency. Clinical features include developmental delay, psyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1033998e07f02ffe4c877d213c18ce7
https://pubmed.ncbi.nlm.nih.gov/34000449
https://pubmed.ncbi.nlm.nih.gov/34000449
