Karaa A - Search Results

1

Understanding the gastrointestinal manifestations of Fabry disease: promoting prompt diagnosis.

Zar-Kessler C, Karaa A, Sims KB, Clarke V, Kuo B. Zar-Kessler C, et al. Among authors: karaa a. Therap Adv Gastroenterol. 2016 Jul;9(4):626-34. doi: 10.1177/1756283X16642936. Epub 2016 Apr 15. Therap Adv Gastroenterol. 2016. PMID: 27366228 Free PMC article. Review.

2

A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system.

Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. Staropoli JF, et al. Among authors: karaa a. Am J Hum Genet. 2012 Jul 13;91(1):202-8. doi: 10.1016/j.ajhg.2012.05.023. Epub 2012 Jun 28. Am J Hum Genet. 2012. PMID: 22748208 Free PMC article.

3

Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.

Cotman SL, Karaa A, Staropoli JF, Sims KB. Cotman SL, et al. Among authors: karaa a. Curr Neurol Neurosci Rep. 2013 Aug;13(8):366. doi: 10.1007/s11910-013-0366-z. Curr Neurol Neurosci Rep. 2013. PMID: 23775425 Free PMC article. Review.

4

Coenzyme Q10 and immunity: A case report and new implications for treatment of recurrent infections in metabolic diseases.

Farough S, Karaa A, Walker MA, Slate N, Dasu T, Verbsky J, Fusunyan R, Canapari C, Kinane TB, Van Cleave J, Sweetser DA, Sims KB, Walter JE. Farough S, et al. Among authors: karaa a. Clin Immunol. 2014 Dec;155(2):209-12. doi: 10.1016/j.clim.2014.09.010. Epub 2014 Sep 28. Clin Immunol. 2014. PMID: 25264263

5

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment.

Politei JM, Bouhassira D, Germain DP, Goizet C, Guerrero-Sola A, Hilz MJ, Hutton EJ, Karaa A, Liguori R, Üçeyler N, Zeltzer LK, Burlina A. Politei JM, et al. Among authors: karaa a. CNS Neurosci Ther. 2016 Jul;22(7):568-76. doi: 10.1111/cns.12542. Epub 2016 Mar 28. CNS Neurosci Ther. 2016. PMID: 27297686 Free PMC article.

6

The spectrum of clinical presentation, diagnosis, and management of mitochondrial forms of diabetes.

Karaa A, Goldstein A. Karaa A, et al. Pediatr Diabetes. 2015 Feb;16(1):1-9. doi: 10.1111/pedi.12223. Epub 2014 Oct 20. Pediatr Diabetes. 2015. PMID: 25330715 Review.

7

Focal segmental glomerulosclerosis associated with mitochondrial disease.

Lim K, Steele D, Fenves A, Thadhani R, Heher E, Karaa A. Lim K, et al. Among authors: karaa a. Clin Nephrol Case Stud. 2017 Mar 3;5:20-25. doi: 10.5414/CNCS109083. eCollection 2017. Clin Nephrol Case Stud. 2017. PMID: 29043143 Free PMC article.

8

Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.

Walker MA, Lareau CA, Ludwig LS, Karaa A, Sankaran VG, Regev A, Mootha VK. Walker MA, et al. Among authors: karaa a. N Engl J Med. 2020 Oct 15;383(16):1556-1563. doi: 10.1056/NEJMoa2001265. Epub 2020 Aug 12. N Engl J Med. 2020. PMID: 32786181 Free PMC article.

9

Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children.

Russo SN, Goldstein A, Karaa A, Koenig MK, Walker M. Russo SN, et al. Among authors: karaa a. Child Neurol Open. 2021 Mar 2;8:2329048X21991382. doi: 10.1177/2329048X21991382. eCollection 2021 Jan-Dec. Child Neurol Open. 2021. PMID: 33718511 Free PMC article.

10

Mitochondrial disease patients' perception of dietary supplements' use.

Karaa A, Kriger J, Grier J, Holbert A, Thompson JL, Parikh S, Hirano M. Karaa A, et al. Mol Genet Metab. 2016 Sep;119(1-2):100-8. doi: 10.1016/j.ymgme.2016.07.005. Epub 2016 Jul 16. Mol Genet Metab. 2016. PMID: 27444792 Free PMC article.

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