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Variable Clinical Spectrum of Inborn Errors of Bile Acid Synthesis: A Report of 10 Cases.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation - 1 Oct 2024

Sümer Coşar Özlem, Öztürk Hakan, Sarı Sinan, Vilarinho Silvia, Kayhan Gülsüm, Eğritaş Gürkan Ödül, Dalgıç Buket

Abstract excerpt

OBJECTIVES: Inborn errors of bile acid synthesis are rare genetic disorders that usually present as neonatal cholestasis and liver disease in older children and adults. The symptomatology of inborn errors of bile acid synthesis can markedly vary among individuals, ranging from mild to severe conditions. Diagnosis is based on genetic tests and/or urine liquid secondary ionization mass spectrometry. Here, we have...

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PMID: 39498929
DOI: 10.6002/ect.pedsymp2024.O29

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