Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 123

1.
3.

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Gillingham MB, Connor WE, Matern D, Rinaldo P, Burlingame T, Meeuws K, Harding CO.

Mol Genet Metab. 2003 Jun;79(2):114-23.

5.

Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.

Gillingham MB, Weleber RG, Neuringer M, Connor WE, Mills M, van Calcar S, Ver Hoeve J, Wolff J, Harding CO.

Mol Genet Metab. 2005 Sep-Oct;86(1-2):124-33. Epub 2005 Jul 22.

6.

The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.

Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, Gibson B, Shapiro S, Strauss AW.

Proc Natl Acad Sci U S A. 1995 Jan 31;92(3):841-5.

7.

Increased and early lipolysis in children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency during fast.

Haglind CB, Nordenström A, Ask S, von Döbeln U, Gustafsson J, Stenlid MH.

J Inherit Metab Dis. 2015 Mar;38(2):315-22. doi: 10.1007/s10545-014-9750-3. Epub 2014 Aug 21. Erratum in: J Inherit Metab Dis. 2015 Mar;38(2):377.

PMID:
25141826
8.

Use of propofol for short duration procedures in children with long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiencies.

Martin JM, Gillingham MB, Harding CO.

Mol Genet Metab. 2014 Jun;112(2):139-42. doi: 10.1016/j.ymgme.2014.03.012. Epub 2014 Apr 6.

9.

[Variation of long-chain 3-hydroxyacyl-CoA dehydrogenase DNA methylation in placenta of different preeclampsia-like mouse models].

Han Y, Yang Z, Ding X, Yu H, Yi Y.

Zhonghua Fu Chan Ke Za Zhi. 2015 Oct;50(10):740-6. Chinese.

PMID:
26675572
10.

Long-chain fatty acid oxidation during early human development.

Oey NA, den Boer ME, Wijburg FA, Vekemans M, Augé J, Steiner C, Wanders RJ, Waterham HR, Ruiter JP, Attié-Bitach T.

Pediatr Res. 2005 Jun;57(6):755-9. Epub 2005 Apr 21.

PMID:
15845636
11.

Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis.

Matern D, Strauss AW, Hillman SL, Mayatepek E, Millington DS, Trefz FK.

Pediatr Res. 1999 Jul;46(1):45-9.

PMID:
10400133
12.

Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians.

Potter BK, Little J, Chakraborty P, Kronick JB, Evans J, Frei J, Sutherland SC, Wilson K, Wilson BJ.

J Inherit Metab Dis. 2012 Jan;35(1):115-23. doi: 10.1007/s10545-011-9352-2. Epub 2011 Jun 1.

PMID:
21630065
13.

Altered body composition and energy expenditure but normal glucose tolerance among humans with a long-chain fatty acid oxidation disorder.

Gillingham MB, Harding CO, Schoeller DA, Matern D, Purnell JQ.

Am J Physiol Endocrinol Metab. 2013 Nov 15;305(10):E1299-308. doi: 10.1152/ajpendo.00225.2013. Epub 2013 Sep 24.

14.

Elevated hydroxyacylcarnitines in a carrier of LCHAD deficiency during acute liver disease of pregnancy - a common feature of the pregnancy complication?

Eskelin PM, Laitinen KA, Tyni TA.

Mol Genet Metab. 2010 Jun;100(2):204-6. doi: 10.1016/j.ymgme.2010.03.006. Epub 2010 Mar 16.

PMID:
20363656
15.

Prospective screening for pediatric mitochondrial trifunctional protein defects in pregnancies complicated by liver disease.

Yang Z, Yamada J, Zhao Y, Strauss AW, Ibdah JA.

JAMA. 2002 Nov 6;288(17):2163-6.

PMID:
12413376
16.

Mitochondrial fatty acid beta-oxidation in the human eye and brain: implications for the retinopathy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Tyni T, Paetau A, Strauss AW, Middleton B, Kivelä T.

Pediatr Res. 2004 Nov;56(5):744-50. Epub 2004 Sep 3.

PMID:
15347768
17.

Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey.

Gillingham M, Van Calcar S, Ney D, Wolff J, Harding C.

J Inherit Metab Dis. 1999 Apr;22(2):123-31.

18.

Neonatal screening for defects of the mitochondrial trifunctional protein.

Sander J, Sander S, Steuerwald U, Janzen N, Peter M, Wanders RJ, Marquardt I, Korenke GC, Das AM.

Mol Genet Metab. 2005 Jun;85(2):108-14. Epub 2005 Mar 24.

PMID:
15896654
19.

Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain: a possible role of mPTP opening as a pathomechanism in these disorders?

Tonin AM, Amaral AU, Busanello EN, Gasparotto J, Gelain DP, Gregersen N, Wajner M.

Biochim Biophys Acta. 2014 Sep;1842(9):1658-67. doi: 10.1016/j.bbadis.2014.06.011. Epub 2014 Jun 16.

20.

Comparison of 2 diets with either 25% or 10% of energy as casein on energy expenditure, substrate balance, and appetite profile.

Hochstenbach-Waelen A, Veldhorst MA, Nieuwenhuizen AG, Westerterp-Plantenga MS, Westerterp KR.

Am J Clin Nutr. 2009 Mar;89(3):831-8. doi: 10.3945/ajcn.2008.26917. Epub 2009 Jan 28.

Supplemental Content

Support Center