2019
Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis
Aksu A, Das SK, Nelson‐Williams C, Jain D, Hoşnut F, Şahin G, Lifton RP, Vilarinho S. Recessive Mutations in KIF12 Cause High Gamma‐Glutamyltransferase Cholestasis. Hepatology Communications 2019, 3: 471-477. PMID: 30976738, PMCID: PMC6442693, DOI: 10.1002/hep4.1320.Peer-Reviewed Original ResearchLiver diseaseHigh GGTUndiagnosed liver diseaseHomozygous mutationCholestatic liver diseaseUnmet medical needWhole-exome sequencingSame homozygous mutationPediatric hepatologyNeonatal cholestasisRare homozygous mutationUnclear etiologyCholestasisUndiagnosed childrenMedical needUnrelated childrenGermline DNADiseaseMember 12ChildrenConsanguineous unionsOlder siblingsMissense mutationsGGTDamaging mutations
2015
Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment
Boga S, Jain D, Schilsky ML. Presentation of Progressive Familial Intrahepatic Cholestasis Type 3 Mimicking Wilson Disease: Molecular Genetic Diagnosis and Response to Treatment. Pediatric Gastroenterology Hepatology & Nutrition 2015, 18: 202-208. PMID: 26473142, PMCID: PMC4600706, DOI: 10.5223/pghn.2015.18.3.202.Peer-Reviewed Original ResearchProgressive familial intrahepatic cholestasis type 3Wilson's diseaseElevated hepatic copperUrine copper excretionCurrent diagnostic criteriaAutosomal recessive disorderHepatic copper contentOlder patientsHepatocellular originUrsodeoxycholic acidDiagnostic criteriaMolecular genetic diagnosisCopper excretionABCB4 geneCholestasisDiagnosisBiochemical testingHepatic copperRecessive disorderType 3Novel mutationsGenetic diagnosisDiseaseMolecular diagnosticsTreatment