FRI276 - The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium

Antonia Felzen; Daan van Wessel; Richard Thompson; Emmanuel Gonzales; Irena Jankowska; Etienne Sokal; Tassos Grammatikopoulos; Agustina Kadaristiana; Emmanuel Jacquemin; Anne Spraul; Patryk Lipiński; Piotr Czubkowski; Nathalie Rock; Mohammad Ali Shagrani; Dieter Clemens Broering; Talal Algoufi; Nejat Mazhar; Emanuele Nicastro; Deirdre Kelly; Gabriella Nebbia; Henrik Arnell; Björn Fischler; JBF Hulscher; Daniele Serranti; Cigdem Arıkan; Esra Polat; Dominique Debray; Florence Lacaille; Cristina Gonçalves; Loreto Hierro; Gema Muñoz Bartolo; Yael Mozer Glassberg; Amer Azaz; Jernej Brecelj; Antal Dezsőfi; Pier Luigi Calvo; Enke Grabhorn; Ekkehard Sturm; Wendy van der Woerd; Binita M. Kamath; Jian-She Wang; Li Liting; Ozlem Durmaz; Nanda Kerkar; Marianne Hørby Jørgensen; Ryan Fischer; Carolina Jimenez-Rivera; Seema Alam; Mara Cananzi; Mathias Ruiz; Cristina Targa; Felipe Ordoñez Ferrero; Heng Wang; Kyungmo Kim; Huey-Ling Chen; Elisa Carvalho; Bettina Hansen; Henkjan Verkade

doi:10.1016/S0168-8278(20)31546-4

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FRI276 - The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium

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FRI276 - The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium

Antonia Felzen, Daan van Wessel, Richard Thompson, Emmanuel Gonzales, Irena Jankowska, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, …

Journal of hepatology, Vol.73, pp.S536-S537

08/2020

DOI: https://doi.org/10.1016/S0168-8278(20)31546-4

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Title: FRI276 - The phenotype of compound heterozygous BSEP deficiency patients is determined by the combined residual function of the two ABCB11 mutations: results from the NAPPED consortium
Creators - without role: Antonia Felzen
Daan van Wessel
Richard Thompson
Emmanuel Gonzales
Irena Jankowska
Etienne Sokal
Tassos Grammatikopoulos
Agustina Kadaristiana
Emmanuel Jacquemin
Anne Spraul
Patryk Lipiński
Piotr Czubkowski
Nathalie Rock
Mohammad Ali Shagrani
Dieter Clemens Broering
Talal Algoufi
Nejat Mazhar
Emanuele Nicastro
Deirdre Kelly
Gabriella Nebbia
Henrik Arnell
Björn Fischler
JBF Hulscher
Daniele Serranti
Cigdem Arıkan
Esra Polat
Dominique Debray
Florence Lacaille
Cristina Gonçalves
Loreto Hierro
Gema Muñoz Bartolo
Yael Mozer Glassberg
Amer Azaz
Jernej Brecelj
Antal Dezsőfi
Pier Luigi Calvo
Enke Grabhorn
Ekkehard Sturm
Wendy van der Woerd
Binita M. Kamath
Jian-She Wang
Li Liting
Ozlem Durmaz
Nanda Kerkar
Marianne Hørby Jørgensen
Ryan Fischer
Carolina Jimenez-Rivera
Seema Alam
Mara Cananzi
Mathias Ruiz
Cristina Targa
Felipe Ordoñez Ferrero
Heng Wang
Kyungmo Kim
Huey-Ling Chen
Elisa Carvalho
Bettina Hansen
Henkjan Verkade
Publication Details: Journal of hepatology, Vol.73, pp.S536-S537
Publisher: Elsevier B.V
Identifiers: 9913899408331
Academic Unit: King Faisal University; Alfaisal University
Language: English
Resource Type: Journal article