Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset

Genetic variants in the adenosine triphosphate‐binding cassette subfamily B member 4 (ABCB4) gene, which encodes hepatocanalicular phosphatidylcholine floppase, can lead to different phenotypes, such as progressive familial intrahepatic cholestasis (PFIC) type 3, low phospholipid‐associated cholelit...

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Detalles Bibliográficos
Autores principales: Schatz, Stephanie Barbara, Jüngst, Christoph, Keitel‐Anselmo, Verena, Kubitz, Ralf, Becker, Christina, Gerner, Patrick, Pfister, Eva‐Doreen, Goldschmidt, Imeke, Junge, Norman, Wenning, Daniel, Gehring, Stephan, Arens, Stefan, Bretschneider, Dirk, Grothues, Dirk, Engelmann, Guido, Lammert, Frank, Baumann, Ulrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944585/
https://www.ncbi.nlm.nih.gov/pubmed/29761167
http://dx.doi.org/10.1002/hep4.1149

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944585/
https://www.ncbi.nlm.nih.gov/pubmed/29761167
http://dx.doi.org/10.1002/hep4.1149

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