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Items: 6

1.

Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases.

Boese EA, Jain N, Jia Y, Schlechter CL, Harding CO, Gao SS, Patel RC, Huang D, Weleber RG, Gillingham MB, Pennesi ME.

Ophthalmology. 2016 Oct;123(10):2183-95. doi: 10.1016/j.ophtha.2016.06.048. Epub 2016 Aug 2.

2.

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.

Diekman EF, Boelen CC, Prinsen BH, Ijlst L, Duran M, de Koning TJ, Waterham HR, Wanders RJ, Wijburg FA, Visser G.

JIMD Rep. 2013;7:1-6. doi: 10.1007/8904_2012_128. Epub 2012 Mar 31.

3.

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

Fletcher AL, Pennesi ME, Harding CO, Weleber RG, Gillingham MB.

Mol Genet Metab. 2012 May;106(1):18-24. doi: 10.1016/j.ymgme.2012.02.015. Epub 2012 Mar 8. Review.

4.
5.

Inborn errors of energy metabolism associated with myopathies.

Das AM, Steuerwald U, Illsinger S.

J Biomed Biotechnol. 2010;2010:340849. doi: 10.1155/2010/340849. Epub 2010 May 26. Review.

6.

Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models.

Spiekerkoetter U, Wood PA.

J Inherit Metab Dis. 2010 Oct;33(5):539-46. doi: 10.1007/s10545-010-9121-7. Epub 2010 Jun 8. Review.

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