Thomas JA - Search Results

1

Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.

Chatfield KC, Coughlin CR 2nd, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Chatfield KC, et al. Among authors: thomas ja. Mitochondrion. 2015 Mar;21:1-10. doi: 10.1016/j.mito.2014.12.005. Epub 2015 Jan 6. Mitochondrion. 2015. PMID: 25575635 Free PMC article.

2

Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome.

Thomas JA, Jacobs S, Kierstein J, Van Hove J. Thomas JA, et al. J Inherit Metab Dis. 2006 Dec;29(6):762. doi: 10.1007/s10545-006-0457-y. Epub 2006 Nov 6. J Inherit Metab Dis. 2006. PMID: 17089217

3

Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.

Van Hove JL, Freehauf C, Miyamoto S, Vladutiu GD, Pancrudo J, Bonilla E, Lovell MA, Mierau GW, Thomas JA, Shanske S. Van Hove JL, et al. Among authors: thomas ja. Eur J Pediatr. 2008 Jul;167(7):771-6. doi: 10.1007/s00431-007-0587-8. Epub 2007 Sep 22. Eur J Pediatr. 2008. PMID: 17891417

4

Management of a patient with holocarboxylase synthetase deficiency.

Van Hove JL, Josefsberg S, Freehauf C, Thomas JA, Thuy le P, Barshop BA, Woontner M, Mock DM, Chiang PW, Spector E, Meneses-Morales I, Cervantes-Roldán R, León-Del-Río A. Van Hove JL, et al. Among authors: thomas ja. Mol Genet Metab. 2008 Dec;95(4):201-5. doi: 10.1016/j.ymgme.2008.09.006. Epub 2008 Oct 29. Mol Genet Metab. 2008. PMID: 18974016 Free PMC article.

5

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.

Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR. Van Hove JL, et al. Among authors: thomas ja. Pediatr Res. 2010 Aug;68(2):159-64. doi: 10.1203/PDR.0b013e3181e5c3a4. Pediatr Res. 2010. PMID: 20453710 Free PMC article.

6

Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes research.

Wright EL, Van Hove JL, Thomas J; Mountain States Metabolic Consortium. Wright EL, et al. Genet Med. 2010 Dec;12(12 Suppl):S228-41. doi: 10.1097/GIM.0b013e3181fe5d50. Genet Med. 2010. PMID: 21150369 Free article.

7

Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria.

Keating AK, Freehauf C, Jiang H, Brodsky GL, Stabler SP, Allen RH, Graham DK, Thomas JA, Van Hove JL, Maclean KN. Keating AK, et al. Among authors: thomas ja. Mol Genet Metab. 2011 Aug;103(4):330-7. doi: 10.1016/j.ymgme.2011.04.012. Epub 2011 May 5. Mol Genet Metab. 2011. PMID: 21601502 Free PMC article.

8

Impact of geographic access to care on compliance and metabolic control in phenylketonuria.

Freehauf C, Van Hove JL, Gao D, Bernstein L, Thomas JA. Freehauf C, et al. Among authors: thomas ja. Mol Genet Metab. 2013 Jan;108(1):13-7. doi: 10.1016/j.ymgme.2012.09.026. Epub 2012 Oct 8. Mol Genet Metab. 2013. PMID: 23177662

9

Distinctive pattern of restricted diffusion in a neonate with molybdenum cofactor deficiency.

Stence NV, Coughlin CR 2nd, Fenton LZ, Thomas JA. Stence NV, et al. Among authors: thomas ja. Pediatr Radiol. 2013 Jul;43(7):882-5. doi: 10.1007/s00247-012-2579-8. Epub 2012 Dec 19. Pediatr Radiol. 2013. PMID: 23250031

10

Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.

Stabler SP, Freehauf C, Allen RH, Thomas J, Gallagher R. Stabler SP, et al. JIMD Rep. 2017;37:55-61. doi: 10.1007/8904_2017_15. Epub 2017 Mar 9. JIMD Rep. 2017. PMID: 28275971 Free PMC article.

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