A case of d-bifunctional protein deficiency: Clinical, biochemical and molecular investigations

作者:Ghirri Paolo*; Vuerich Marco; Ferdinandusse Sacha; Waterham Hans R; Guzzetta Andrea; Bianchi Maria C; Boldrini Antonio; Wanders Ronald J A
来源:Pediatrics International, 2011, 53(4): 583-587.
DOI:10.1111/j.1442-200X.2010.03255.x