title: Severe neonatal jaundice due to a de novo glucose-6-phosphate dehydrogenase deficient mutation.
authors.affiliation: BioCruces Health Research Institute, Barakaldo, Spain. rafaelandres.delorbebarreto@osakidetza.net.
authors.forename: R
authors.initials: R
authors.lastname: Del Orbe Barreto
authors.affiliation: BioCruces Health Research Institute, Barakaldo, Spain.|Servicio de Hematología, Hospital Universitario Cruces, Barakaldo, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Arrizabalaga
authors.affiliation: BioCruces Health Research Institute, Barakaldo, Spain.
authors.forename: A B
authors.initials: AB
authors.lastname: de la Hoz
authors.affiliation: Servicio de Hematología, Hospital Universitario Cruces, Barakaldo, Spain.
authors.forename: P
authors.initials: P
authors.lastname: Aragües
authors.affiliation: BioCruces Health Research Institute, Barakaldo, Spain.|Servicio de Hematología, Hospital Universitario Cruces, Barakaldo, Spain.
authors.forename: J C
authors.initials: JC
authors.lastname: Garcia-Ruiz
authors.affiliation: Servicio de Inmunología, Hospital Universitario Cruces, Barakaldo, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Arrieta
authors.affiliation: Servicio de Pediatría, Hospital Universitario Cruces, Barakaldo, Spain.
authors.forename: R
authors.initials: R
authors.lastname: Adán
authors.affiliation: Serviço de Hematologia Clínica, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.|CIAS/Departamento de Ciências da Vida, Universidade de Coimbra, Coimbra, Portugal.
authors.forename: L
authors.initials: L
authors.lastname: Manco
authors.affiliation: Protein Crystallography Group, Institute for Molecular and Cell Biology (IBMC), Universidade do Porto, Porto, Portugal.
authors.forename: S
authors.initials: S
authors.lastname: Macedo-Ribeiro
authors.affiliation: Serviço de Hematologia Clínica, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: C
authors.initials: C
authors.lastname: Bento
authors.affiliation: Serviço de Hematologia Clínica, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
authors.forename: M L
authors.initials: ML
authors.lastname: Ribeiro
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D005954:Glucosephosphate Dehydrogenase / Q000737:chemistry / Q000235:genetics; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000150:complications* / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000175:diagnosis* / Q000209:etiology*; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D011487:Protein Conformation; D012720:Severity of Illness Index
chemical_list: D005954:Glucosephosphate Dehydrogenase