Research ArticleShort Communication
A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type 1 Crigler-Najjar Syndrome
Walaa Elfar, Erkka Järvinen, Weizhen Ji, Johanna Mosorin, Annalisa G. Sega, Alina C. Iuga, Steven J. Lobritto, Monica Konstantino, Albert Chan, Moshe Finel and Saquib A. Lakhani
Drug Metabolism and Disposition January 2019, 47 (1) 45-48; DOI: https://doi.org/10.1124/dmd.118.084368
Walaa Elfar
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Erkka Järvinen
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Weizhen Ji
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Johanna Mosorin
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Annalisa G. Sega
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Alina C. Iuga
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Steven J. Lobritto
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Monica Konstantino
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Albert Chan
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Moshe Finel
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Saquib A. Lakhani
Department of Pediatrics, Milton S. Hershey Penn State Medical Center, Hershey, Pennsylvania (W.E.); Division of Pharmaceutical Chemistry and Technology, University of Helsinki, Helsinki, Finland (E.J., J.M., M.F.); Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut (W.J., A.G.S., M.K., S.A.L.); Departments of Pathology and Cell Biology (A.C.I.) and Surgery (S.J.L.), Columbia University Medical Center, New York, New York; and Department of Pediatrics, University of Rochester Medical Center, Rochester, New York (A.C.)
Submit a Response to This Article
Jump to comment:
No eLetters have been published for this article.
In this issue
Research ArticleShort Communication
Novel Pathogenic UGT1A1 Variant
Walaa Elfar, Erkka Järvinen, Weizhen Ji, Johanna Mosorin, Annalisa G. Sega, Alina C. Iuga, Steven J. Lobritto, Monica Konstantino, Albert Chan, Moshe Finel and Saquib A. Lakhani
Drug Metabolism and Disposition January 1, 2019, 47 (1) 45-48; DOI: https://doi.org/10.1124/dmd.118.084368
Research ArticleShort Communication
Novel Pathogenic UGT1A1 Variant
Walaa Elfar, Erkka Järvinen, Weizhen Ji, Johanna Mosorin, Annalisa G. Sega, Alina C. Iuga, Steven J. Lobritto, Monica Konstantino, Albert Chan, Moshe Finel and Saquib A. Lakhani
Drug Metabolism and Disposition January 1, 2019, 47 (1) 45-48; DOI: https://doi.org/10.1124/dmd.118.084368
Jump to section
Related Articles
Cited By...
More in this TOC Section
Similar Articles
Advertisement