A novel pathogenic UGT1A1 variant in a Sudanese child with type 1 Crigler-Najjar syndrome

Walaa Elfar, Erkka Järvinen, J.I. Weizhen, Johanna Mosorin, Annalisa G. Sega, Alina C. Iuga, Steven J. Lobritto, Monica Konstantino, Albert Chan, M. Finel, Saquib A. Lakhani

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalDrug Metabolism and Disposition
Volume47
Issue number1
Pages (from-to)45-48
Number of pages4
ISSN1521-009X
DOIs
Publication statusPublished - 1 Jan 2019
MoE publication typeA1 Journal article-refereed

Fields of Science

  • BILIRUBIN
  • EXPRESSION
  • GENES
  • INHERITED DISORDERS
  • UDP-GLUCURONOSYLTRANSFERASE
  • 317 Pharmacy

Cite this

Elfar, Walaa ; Järvinen, Erkka ; Weizhen, J.I. ; Mosorin, Johanna ; Sega, Annalisa G. ; Iuga, Alina C. ; Lobritto, Steven J. ; Konstantino, Monica ; Chan, Albert ; Finel, M. ; Lakhani, Saquib A. / A novel pathogenic UGT1A1 variant in a Sudanese child with type 1 Crigler-Najjar syndrome. In: Drug Metabolism and Disposition. 2019 ; Vol. 47, No. 1. pp. 45-48.
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author = "Walaa Elfar and Erkka J{\"a}rvinen and J.I. Weizhen and Johanna Mosorin and Sega, {Annalisa G.} and Iuga, {Alina C.} and Lobritto, {Steven J.} and Monica Konstantino and Albert Chan and M. Finel and Lakhani, {Saquib A.}",
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Elfar, W, Järvinen, E, Weizhen, JI, Mosorin, J, Sega, AG, Iuga, AC, Lobritto, SJ, Konstantino, M, Chan, A, Finel, M & Lakhani, SA 2019, 'A novel pathogenic UGT1A1 variant in a Sudanese child with type 1 Crigler-Najjar syndrome' Drug Metabolism and Disposition, vol. 47, no. 1, pp. 45-48. https://doi.org/10.1124/dmd.118.084368

A novel pathogenic UGT1A1 variant in a Sudanese child with type 1 Crigler-Najjar syndrome. / Elfar, Walaa; Järvinen, Erkka; Weizhen, J.I.; Mosorin, Johanna; Sega, Annalisa G.; Iuga, Alina C.; Lobritto, Steven J.; Konstantino, Monica; Chan, Albert; Finel, M.; Lakhani, Saquib A.

In: Drug Metabolism and Disposition, Vol. 47, No. 1, 01.01.2019, p. 45-48.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - A novel pathogenic UGT1A1 variant in a Sudanese child with type 1 Crigler-Najjar syndrome

AU - Elfar, Walaa

AU - Järvinen, Erkka

AU - Weizhen, J.I.

AU - Mosorin, Johanna

AU - Sega, Annalisa G.

AU - Iuga, Alina C.

AU - Lobritto, Steven J.

AU - Konstantino, Monica

AU - Chan, Albert

AU - Finel, M.

AU - Lakhani, Saquib A.

N1 - Export Date: 30 January 2019

PY - 2019/1/1

Y1 - 2019/1/1

KW - BILIRUBIN

KW - EXPRESSION

KW - GENES

KW - INHERITED DISORDERS

KW - UDP-GLUCURONOSYLTRANSFERASE

KW - 317 Pharmacy

U2 - 10.1124/dmd.118.084368

DO - 10.1124/dmd.118.084368

M3 - Article

VL - 47

SP - 45

EP - 48

JO - Drug Metabolism and Disposition

JF - Drug Metabolism and Disposition

SN - 1521-009X

IS - 1

ER -