See links to full-text articles on PubMed.gov.

1. DeLany JP, Horgan A, Gregor A, Vockley J, Harding CO, Gillingham MB. Resting and 
total energy expenditure of patients with long-chain fatty acid oxidation
disorders (LC-FAODs). Mol Genet Metab. 2023 Jan 18;138(3):107519. doi:
10.1016/j.ymgme.2023.107519. [Epub ahead of print] PubMed [citation] PMID:
36696737

2. Gaston G, Gangoiti JA, Winn S, Chan B, Barshop BA, Harding CO, Gillingham MB.
Cardiac tissue citric acid cycle intermediates in exercised very long-chain
acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain
triglyceride. J Inherit Metab Dis. 2020 Nov;43(6):1232-1242. doi:
10.1002/jimd.12284. Epub 2020 Aug 4. PubMed [citation] PMID: 33448436

3. Elizondo G, Matern D, Vockley J, Harding CO, Gillingham MB. Effects of fasting,
feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD
and LCHADD/TFPD. Mol Genet Metab. 2020 Sep - Oct;131(1-2):90-97. doi:
10.1016/j.ymgme.2020.09.001. Epub 2020 Sep 6. PubMed [citation] PMID: 32928639,
PMCID: PMC8048763

4. Gillingham MB, Elizondo G, Behrend A, Matern D, Schoeller DA, Harding CO, Purnell
JQ. Higher dietary protein intake preserves lean body mass, lowers liver lipid
deposition, and maintains metabolic control in participants with long-chain fatty
acid oxidation disorders. J Inherit Metab Dis. 2019 Sep;42(5):857-869. doi:
10.1002/jimd.12155. Epub 2019 Jul 24. PubMed [citation] PMID: 31295363, PMCID:
PMC7452215

5. McCoin CS, Gillingham MB, Knotts TA, Vockley J, Ono-Moore KD, Blackburn ML,
Norman JE, Adams SH. Blood cytokine patterns suggest a modest inflammation
phenotype in subjects with long-chain fatty acid oxidation disorders. Physiol
Rep. 2019 Mar;7(6):e14037. doi: 10.14814/phy2.14037. PubMed [citation] PMID:
30912279, PMCID: PMC6434073

6. Gillingham MB, Heitner SB, Martin J, Rose S, Goldstein A, El-Gharbawy AH, Deward 
S, Lasarev MR, Pollaro J, DeLany JP, Burchill LJ, Goodpaster B, Shoemaker J,
Matern D, Harding CO, Vockley J. Triheptanoin versus trioctanoin for long-chain
fatty acid oxidation disorders: a double blinded, randomized controlled trial. J 
Inherit Metab Dis. 2017 Nov;40(6):831-843. doi: 10.1007/s10545-017-0085-8. Epub
2017 Sep 4. PubMed [citation] PMID: 28871440, PMCID: PMC6545116

7. Boese EA, Jain N, Jia Y, Schlechter CL, Harding CO, Gao SS, Patel RC, Huang D,
Weleber RG, Gillingham MB, Pennesi ME. Characterization of Chorioretinopathy
Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term
Follow-up of 21 Cases. Ophthalmology. 2016 Oct;123(10):2183-95. doi:
10.1016/j.ophtha.2016.06.048. Epub 2016 Aug 2. PubMed [citation] PMID: 27491397, 
PMCID: PMC5035590

8. McCoin CS, Piccolo BD, Knotts TA, Matern D, Vockley J, Gillingham MB, Adams SH.
Unique plasma metabolomic signatures of individuals with inherited disorders of
long-chain fatty acid oxidation. J Inherit Metab Dis. 2016 May;39(3):399-408.
doi: 10.1007/s10545-016-9915-3. Epub 2016 Feb 23. PubMed [citation] PMID:
26907176, PMCID: PMC4851894

9. Martin JM, Gillingham MB, Harding CO. Use of propofol for short duration
procedures in children with long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or
trifunctional protein (TFP) deficiencies. Mol Genet Metab. 2014
Jun;112(2):139-42. doi: 10.1016/j.ymgme.2014.03.012. Epub 2014 Apr 6. PubMed
[citation] PMID: 24780638, PMCID: PMC4121654

10. Gillingham MB, Harding CO, Schoeller DA, Matern D, Purnell JQ. Altered body
composition and energy expenditure but normal glucose tolerance among humans with
a long-chain fatty acid oxidation disorder. Am J Physiol Endocrinol Metab. 2013
Nov 15;305(10):E1299-308. doi: 10.1152/ajpendo.00225.2013. Epub 2013 Sep 24.
PubMed [citation] PMID: 24064340, PMCID: PMC3840216

11. Fletcher AL, Pennesi ME, Harding CO, Weleber RG, Gillingham MB. Observations
regarding retinopathy in mitochondrial trifunctional protein deficiencies. Mol
Genet Metab. 2012 May;106(1):18-24. doi: 10.1016/j.ymgme.2012.02.015. Epub 2012
Mar 8. Review. PubMed [citation] PMID: 22459206, PMCID: PMC3506186

12. Behrend AM, Harding CO, Shoemaker JD, Matern D, Sahn DJ, Elliot DL, Gillingham
MB. Substrate oxidation and cardiac performance during exercise in disorders of
long chain fatty acid oxidation. Mol Genet Metab. 2012 Jan;105(1):110-5. doi:
10.1016/j.ymgme.2011.09.030. Epub 2011 Oct 1. PubMed [citation] PMID: 22030098,
PMCID: PMC3253922

13. Gillingham MB, Matern D, Harding CO. EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON 
PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY. Top Clin Nutr. 
2009 Oct;24(4):359-365. PubMed [citation] PMID: 20589231, PMCID: PMC2892921

14. Gillingham MB, Purnell JQ, Jordan J, Stadler D, Haqq AM, Harding CO. Effects of
higher dietary protein intake on energy balance and metabolic control in children
with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein
(TFP) deficiency. Mol Genet Metab. 2007 Jan;90(1):64-9. Epub 2006 Sep 22. PubMed 
[citation] PMID: 16996288, PMCID: PMC2813195

15. Gillingham MB, Scott B, Elliott D, Harding CO. Metabolic control during exercise 
with and without medium-chain triglycerides (MCT) in children with long-chain
3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP)
deficiency. Mol Genet Metab. 2006 Sep-Oct;89(1-2):58-63. Epub 2006 Jul 27. PubMed
[citation] PMID: 16876451, PMCID: PMC2706834

16. Gillingham MB, Weleber RG, Neuringer M, Connor WE, Mills M, van Calcar S, Ver
Hoeve J, Wolff J, Harding CO. Effect of optimal dietary therapy upon visual
function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and
trifunctional protein deficiency. Mol Genet Metab. 2005 Sep-Oct;86(1-2):124-33.
Epub 2005 Jul 22. PubMed [citation] PMID: 16040264, PMCID: PMC2694051

17. Gillingham MB, Connor WE, Matern D, Rinaldo P, Burlingame T, Meeuws K, Harding
CO. Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase
deficiency. Mol Genet Metab. 2003 Jun;79(2):114-23. PubMed [citation] PMID:
12809642, PMCID: PMC2813192

MitoAction Expert Series Talks

Below are links to previously recorded presentations on MitoAction.org.

September 14, 2022 - Cardiac Complications with LCHADD

October 5, 2022 - LCHADD Retinopathy

November 1, 2023 - LCHADD Retinopathy Update: Moving Toward a Treatment

Podcast Episodes

Dr. Gillingham joined the Journal of Inherited Metabolic Disease (JIMD) podcast to discuss LCHADD retinopathy and outcomes following early or late diagnosis. Links to the episode via different podcast platforms are below.

Spotify
Apple
Soundcloud