@article {781,
	title = {Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.},
	journal = {Hepatology},
	volume = {71},
	year = {2020},
	month = {2020 05},
	pages = {1879-1882},
	keywords = {Child, Preschool, Cholestasis, Diarrhea, Humans, Liver, Liver Cirrhosis, Male, Mutation, Pedigree, Receptors, G-Protein-Coupled},
	issn = {1527-3350},
	doi = {10.1002/hep.31087},
	author = {Gao, Emily and Cheema, Huma and Waheed, Nadia and Mushtaq, Iqra and Erden, Nihan and Nelson-Williams, Carol and Jain, Dhanpat and Soroka, Carol J and Boyer, James L and Khalil, Youssef and Clayton, Peter T and Mistry, Pramod K and Lifton, Richard P and Vilarinho, S{\'\i}lvia}
}
@article {20,
	title = {ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment.},
	journal = {Proc Natl Acad Sci U S A},
	volume = {113},
	year = {2016},
	month = {2016 Oct 04},
	pages = {11289-11293},
	abstract = {<p>Acyl CoA Oxidase 2 (ACOX2) encodes branched-chain acyl-CoA oxidase, a peroxisomal enzyme believed to be involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Deficiency of this enzyme has not been described previously. We report an 8-y-old male with intermittently elevated transaminase levels, liver fibrosis, mild ataxia, and cognitive impairment. Exome sequencing revealed a previously unidentified homozygous premature termination mutation (p.Y69*) in ACOX2 Immunohistochemistry confirmed the absence of ACOX2 expression in the patient{\textquoteright}s liver, and biochemical analysis showed marked elevation of intermediate bile acids upstream of ACOX2. These findings define a potentially treatable inborn error of bile acid biosynthesis caused by ACOX2 deficiency.</p>},
	keywords = {Ataxia, Bile Acids and Salts, Child, Cognitive Dysfunction, Homozygote, Humans, Infant, Infant, Newborn, Liver, Liver Cirrhosis, Loss of Function Mutation, Male, Mutation, Oxidation-Reduction, Oxidoreductases, Transaminases},
	issn = {1091-6490},
	doi = {10.1073/pnas.1613228113},
	author = {Vilarinho, S{\'\i}lvia and Sari, Sinan and Mazzacuva, Francesca and Bilguvar, Kaya and Esendagli-Yilmaz, G{\"u}ldal and Jain, Dhanpat and Akyol, G{\"u}len and Dalgi{\c c}, Buket and G{\"u}nel, Murat and Clayton, Peter T and Lifton, Richard P}
}
