title: A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations.
authors.affiliation: Neonatology Unit, Department of Neuroradiology, S. Chiara Hospital, AOUP, Pisa, Italy. pghirri@med.unipi.it
authors.forename: Paolo
authors.initials: P
authors.lastname: Ghirri
authors.forename: Marco
authors.initials: M
authors.lastname: Vuerich
authors.forename: Sacha
authors.initials: S
authors.lastname: Ferdinandusse
authors.forename: Hans R
authors.initials: HR
authors.lastname: Waterham
authors.forename: Andrea
authors.initials: A
authors.lastname: Guzzetta
authors.forename: Maria C
authors.initials: MC
authors.lastname: Bianchi
authors.forename: Antonio
authors.initials: A
authors.lastname: Boldrini
authors.forename: Ronald J A
authors.initials: RJ
authors.lastname: Wanders
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency* / Q000235:genetics; D007231:Infant, Newborn; D018901:Peroxisomal Disorders / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D064029:Peroxisomal Multifunctional Protein-2
chemical_list: D015067:17-Hydroxysteroid Dehydrogenases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human