title: [Atypical presentation and delayed diagnosis in a case of primary bile acid synthesis disorder].
authors.affiliation: Servicio de Medicina de Aparato Digestivo, Hospital Universitario 12 de Octubre, Madrid, España. Electronic address: cgarfia@hotmail.com.
authors.forename: Cristina
authors.initials: C
authors.lastname: Garfia Castillo
authors.affiliation: Servicio de Pediatría, Hospital Universitario 12 de Octubre, Madrid, España.
authors.forename: Javier
authors.initials: J
authors.lastname: Manzanares López-Manzanares
authors.affiliation: Servicio de Pediatría, Hospital Universitario 12 de Octubre, Madrid, España.
authors.forename: M Teresa
authors.initials: MT
authors.lastname: García Silva
mesh_terms: D002779:Cholestasis / Q000175:diagnosis* / Q000235:genetics; D057210:Delayed Diagnosis; D005819:Genetic Markers; D006801:Humans; D006913:Hydroxysteroid Dehydrogenases / Q000235:genetics; D008297:Male; D043202:Steroid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult
chemical_list: D005819:Genetic Markers; D006913:Hydroxysteroid Dehydrogenases