Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome-Reference-Cited by-同舟云学术

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Co-inheritance of G6PD and PK deficiencies in a neonate carrying a Novel UGT1A1 genotype associated to Crigler-Najjar type II syndrome

Published:2015-03-27 Issue:9 Volume:62 Page:1680-1681
ISSN:1545-5009
Container-title:Pediatric Blood & Cancer
language:en
Short-container-title:Pediatr Blood Cancer

Author:

Minucci Angelo¹,Ruggiero Antonio²,Canu Giulia¹,Maurizi Palma²,De Bonis Maria¹,Concolino Paola¹,De Luca Daniele¹³,Capoluongo Ettore¹

Affiliation:

1. Department of Laboratory Medicine; Laboratory of Clinical Molecular and Personalized Diagnostics; Roma Italy

2. Division of Pediatric Oncology; A Gemelli Hospital, Università Cattolica del Sacro Cuore, Largo Agostino Gemelli; Roma Italy

3. Division of Pediatrics and Neonatal Critical Care, FAME Dept; South Paris University Hospitals, “A.Beclere” Medical Center - APHP; Paris France

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/pbc.25500/fullpdf

Reference10 articles.

1. Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism;Kaplan;Hepatology,2002

2. Severe hyperbilirubinemia in a glucose-6-phosphate dehydrogenase-deficient preterm neonate: could prematurity be the main responsible factor?;Costa;Fetal Diagn Ther,2008

3. Pyruvate kinase deficiency;Zanella;Haematologica,2007

4. Phenotype heterogeneity of hyperbilirubinemia condition: the lesson by coinheritance of glucose-6-phosphate dehydrogenase deficiency and Crigler-Najjar syndrome type II in an Italian patient;Minucci;Blood Cells Mol Dis,2012

5. Rapid and simple identification of the commonest glucose-6-phosphate dehydrogenase (G6PD) Italian mutations: from DNA extraction to genotyping;Minucci;Clin Chim Acta,2012

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Chronic hemolytic anemia associated to G6PD Canton aggravated by a KLF1 mutation;Pediatric Blood & Cancer;2023-04-24

2. Commentary: Case Report: Hyperbilirubinemia in Gilbert Syndrome Attenuates Covid-19-Induced Metabolic Disturbances;Frontiers in Cardiovascular Medicine;2021-07-22

3. Molecular basis of pyruvate kinase deficiency among Tunisians: description of new mutations affecting coding and noncoding regions in thePKLRgene;International Journal of Laboratory Hematology;2017-01-30

4. Hemolytic anemia with null PKLR mutations identified using whole exome sequencing and cured by hematopoietic stem cell transplantation combined with splenectomy;Bone Marrow Transplantation;2016-09-05

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