Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.

doi:10.1097/MPG.0000000000003153

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Article

Mutation Analysis and Disease Features at Presentation in a Multi-Center Cohort of Children With Monogenic Cholestasis.

Journal of pediatric gastroenterology and nutrition - 1 Aug 2021

Hertel Paula M, Bull Laura N, Thompson Richard J, Goodrich Nathan P, Ye Wen, Magee John C, Squires Robert H, Bass Lee M, Heubi James E, Kim Grace E, Ranganathan Sarangarajan, Schwarz Kathleen B, Bozic Molly A, Horslen Simon P, Clifton Matthew S, Turmelle Yumirle P, Suchy Frederick J, Superina Riccardo A, Wang Kasper S, Loomes Kathleen M, Kamath Binita M, Sokol Ronald J, Shneider Benjamin L

Abstract excerpt

OBJECTIVES: To advance our understanding of monogenic forms of intrahepatic cholestasis. METHODS: Analyses included participants with pathogenic biallelic mutations in adenosine triphosphate (ATP)-binding cassette subfamily B member 11 (ABCB11) (bile salt export pump; BSEP) or adenosine triphosphatase (ATPase) phospholipid transporting 8B1 (ATP8B1) (familial intrahepatic cholestasis; FIC1), or those with...

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PMID: 34016879
DOI: 10.1097/MPG.0000000000003153
PMCID: PMC8373673

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