title: Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome.
authors.affiliation: Department of Laboratory Medicine, Laboratory of Clinical Molecular and Personalized Diagnostics, Roma, Italy.
authors.forename: Angelo
authors.initials: A
authors.lastname: Minucci
authors.affiliation: Division of Pediatric Oncology, A Gemelli Hospital, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli, Roma, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Ruggiero
authors.affiliation: Department of Laboratory Medicine, Laboratory of Clinical Molecular and Personalized Diagnostics, Roma, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Canu
authors.affiliation: Division of Pediatric Oncology, A Gemelli Hospital, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli, Roma, Italy.
authors.forename: Palma
authors.initials: P
authors.lastname: Maurizi
authors.affiliation: Department of Laboratory Medicine, Laboratory of Clinical Molecular and Personalized Diagnostics, Roma, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: De Bonis
authors.affiliation: Department of Laboratory Medicine, Laboratory of Clinical Molecular and Personalized Diagnostics, Roma, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Concolino
authors.affiliation: Department of Laboratory Medicine, Laboratory of Clinical Molecular and Personalized Diagnostics, Roma, Italy.|Division of Pediatrics and Neonatal Critical Care, FAME Dept, South Paris University Hospitals, "A.Beclere" Medical Center - APHP, Paris, France.
authors.forename: Daniele
authors.initials: D
authors.lastname: De Luca
authors.affiliation: Department of Laboratory Medicine, Laboratory of Clinical Molecular and Personalized Diagnostics, Roma, Italy.
authors.forename: Ettore
authors.initials: E
authors.lastname: Capoluongo
mesh_terms: D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000235:genetics*; D018389:Codon, Nonsense; D003414:Crigler-Najjar Syndrome / Q000150:complications / Q000235:genetics*; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D005260:Female; D005878:Gilbert Disease / Q000150:complications / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000235:genetics*; D014453:Glucuronosyltransferase / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D006579:Heterozygote; D006801:Humans; D051556:Hyperbilirubinemia, Neonatal / Q000175:diagnosis* / Q000209:etiology; D007231:Infant, Newborn; D007567:Jaundice, Neonatal / Q000175:diagnosis; D008297:Male; D011401:Promoter Regions, Genetic / Q000235:genetics; D021381:Protein Transport; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics; D015323:Pyruvate Metabolism, Inborn Errors / Q000235:genetics*; D000099148:UGT1A1 Enzyme
chemical_list: D018389:Codon, Nonsense; D014453:Glucuronosyltransferase; D011770:Pyruvate Kinase; D000099148:UGT1A1 Enzyme