Cowan T - Search Results

1

Variable clinical severity in TANGO2 deficiency: Case series and literature review.

Schymick J, Leahy P, Cowan T, Ruzhnikov MRZ, Gates R, Fernandez L, Pramanik G; Undiagnosed Diseases Network; Yarlagadda V, Wheeler M, Bernstein JA, Enns GM, Lee C. Schymick J, et al. Among authors: cowan t. Am J Med Genet A. 2022 Feb;188(2):473-487. doi: 10.1002/ajmg.a.62543. Epub 2021 Oct 19. Am J Med Genet A. 2022. PMID: 34668327 Review.

2

Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.

Gallagher RC, Cowan TM, Goodman SI, Enns GM. Gallagher RC, et al. Mol Genet Metab. 2005 Nov;86(3):417-20. doi: 10.1016/j.ymgme.2005.08.005. Epub 2005 Sep 23. Mol Genet Metab. 2005. PMID: 16183314

3

Progressive cerebral vascular degeneration with mitochondrial encephalopathy.

Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher RC, Enns GM. Longo N, et al. Am J Med Genet A. 2008 Feb 1;146A(3):361-7. doi: 10.1002/ajmg.a.31841. Am J Med Genet A. 2008. PMID: 18203188

4

Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism.

Miousse IR, Watkins D, Coelho D, Rupar T, Crombez EA, Vilain E, Bernstein JA, Cowan T, Lee-Messer C, Enns GM, Fowler B, Rosenblatt DS. Miousse IR, et al. Among authors: cowan t. J Pediatr. 2009 Apr;154(4):551-6. doi: 10.1016/j.jpeds.2008.10.043. Epub 2008 Dec 5. J Pediatr. 2009. PMID: 19058814

5

Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia.

Atkuri KR, Cowan TM, Kwan T, Ng A, Herzenberg LA, Herzenberg LA, Enns GM. Atkuri KR, et al. Among authors: cowan tm. Proc Natl Acad Sci U S A. 2009 Mar 10;106(10):3941-5. doi: 10.1073/pnas.0813409106. Epub 2009 Feb 17. Proc Natl Acad Sci U S A. 2009. PMID: 19223582 Free PMC article.

6

Mapping gene associations in human mitochondria using clinical disease phenotypes.

Scharfe C, Lu HH, Neuenburg JK, Allen EA, Li GC, Klopstock T, Cowan TM, Enns GM, Davis RW. Scharfe C, et al. Among authors: cowan tm. PLoS Comput Biol. 2009 Apr;5(4):e1000374. doi: 10.1371/journal.pcbi.1000374. Epub 2009 Apr 24. PLoS Comput Biol. 2009. PMID: 19390613 Free PMC article.

7

A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.

Seaver LH, He XY, Abe K, Cowan T, Enns GM, Sweetman L, Philipp M, Lee S, Malik M, Yang SY. Seaver LH, et al. Among authors: cowan t. PLoS One. 2011;6(11):e27348. doi: 10.1371/journal.pone.0027348. Epub 2011 Nov 22. PLoS One. 2011. PMID: 22132097 Free PMC article.

8

Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience.

Kim IK, Niemi AK, Krueger C, Bonham CA, Concepcion W, Cowan TM, Enns GM, Esquivel CO. Kim IK, et al. Pediatr Transplant. 2013 Mar;17(2):158-67. doi: 10.1111/petr.12041. Epub 2013 Jan 24. Pediatr Transplant. 2013. PMID: 23347504

9

β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.

Moore T, Bernstein JA, Casson-Parkin S, Cowan TM. Moore T, et al. Among authors: cowan tm. JIMD Rep. 2013;7:77-9. doi: 10.1007/8904_2012_145. Epub 2012 Apr 22. JIMD Rep. 2013. PMID: 23430499 Free PMC article.

10

A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole blood.

Moore T, Le A, Niemi AK, Kwan T, Cusmano-Ozog K, Enns GM, Cowan TM. Moore T, et al. Among authors: cowan tm. J Chromatogr B Analyt Technol Biomed Life Sci. 2013 Jun 15;929:51-5. doi: 10.1016/j.jchromb.2013.04.004. Epub 2013 Apr 12. J Chromatogr B Analyt Technol Biomed Life Sci. 2013. PMID: 23660247

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

363 results

Search Page

Filters