Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: 6-pyruvoyl-tetrahydropterin Synthase Deficiency[original query] |
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Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clinical genetics 2010 1 77 (3): 249-57. Leuzzi V, Carducci C A, Carducci C L, Pozzessere S, Burlina A, Cerone R, Concolino D, Donati M A, Fiori L, Meli C, Ponzone A, Porta F, Strisciuglio P, Antonozzi I, Blau |
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