Shwachman–Diamond syndrome mimicking mitochondrial hepatopathy
Kaufman O, Donnelly C, Cork E, Fiel M, Chu J, Ganesh J. Shwachman–Diamond syndrome mimicking mitochondrial hepatopathy. JPGN Reports 2024, 5: 213-217. PMID: 38756125, PMCID: PMC11093899, DOI: 10.1002/jpr3.12064.Peer-Reviewed Original ResearchShwachman-Bodian-Diamond syndromeMaintenance of mitochondrial DNARegulation of mitochondrial functionShwachman-Diamond syndromeMitochondrial DNAMitochondrial phenotypeMitochondrial diseaseMitochondrial hepatopathySmall mitochondriaMitochondrial functionShwachman-Diamond syndrome patientsGenetic disordersInborn errors of metabolismErrors of metabolismMolecular research studiesInborn errorsMitochondriaDNAMutationsElectron micrographsPhenotype