title: Mild case of D-bifunctional protein deficiency associated with novel gene mutations.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mizumoto
authors.forename: Ryoko
authors.initials: R
authors.lastname: Akashi
authors.forename: Norikatsu
authors.initials: N
authors.lastname: Hikita
authors.forename: Akira
authors.initials: A
authors.lastname: Kumakura
authors.forename: Yoko
authors.initials: Y
authors.lastname: Yoshida
authors.forename: Ayako
authors.initials: A
authors.lastname: Honda
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Shimozawa
authors.forename: Daisuke
authors.initials: D
authors.lastname: Hata
mesh_terms: D015067:17-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics; D005455:Fluorescent Antibody Technique; D015870:Gene Expression; D006801:Humans; D006836:Hydro-Lyases / Q000172:deficiency* / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D018901:Peroxisomal Disorders / Q000235:genetics*; D064029:Peroxisomal Multifunctional Protein-2
chemical_list: D018389:Codon, Nonsense; D015067:17-Hydroxysteroid Dehydrogenases; D006836:Hydro-Lyases; D064029:Peroxisomal Multifunctional Protein-2; C104587:HSD17B4 protein, human