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Hermansky-Pudlak syndrome in two African-American brothers.
Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O'Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA. Merideth MA, et al. Among authors: sparks se. Am J Med Genet A. 2009 May;149A(5):987-92. doi: 10.1002/ajmg.a.32757. Am J Med Genet A. 2009. PMID: 19334085 Free PMC article.
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
Ng BG, Shiryaev SA, Rymen D, Eklund EA, Raymond K, Kircher M, Abdenur JE, Alehan F, Midro AT, Bamshad MJ, Barone R, Berry GT, Brumbaugh JE, Buckingham KJ, Clarkson K, Cole FS, O'Connor S, Cooper GM, Van Coster R, Demmer LA, Diogo L, Fay AJ, Ficicioglu C, Fiumara A, Gahl WA, Ganetzky R, Goel H, Harshman LA, He M, Jaeken J, James PM, Katz D, Keldermans L, Kibaek M, Kornberg AJ, Lachlan K, Lam C, Yaplito-Lee J, Nickerson DA, Peters HL, Race V, Régal L, Rush JS, Rutledge SL, Shendure J, Souche E, Sparks SE, Trapane P, Sanchez-Valle A, Vilain E, Vøllo A, Waechter CJ, Wang RY, Wolfe LA, Wong DA, Wood T, Yang AC; University of Washington Center for Mendelian Genomics; Matthijs G, Freeze HH. Ng BG, et al. Among authors: sparks se. Hum Mutat. 2016 Jul;37(7):653-60. doi: 10.1002/humu.22983. Epub 2016 Mar 21. Hum Mutat. 2016. PMID: 26931382 Free PMC article.
Inherited disorders of glycosylation.
Sparks SE. Sparks SE. Mol Genet Metab. 2006 Jan;87(1):1-7. doi: 10.1016/j.ymgme.2005.11.004. Mol Genet Metab. 2006. PMID: 16511948 Review. No abstract available.
Congenital protein hypoglycosylation diseases.
Sparks SE. Sparks SE. Appl Clin Genet. 2012 Jul 5;5:43-54. doi: 10.2147/TACG.S18673. Print 2012. Appl Clin Genet. 2012. PMID: 23776380 Free PMC article.
66 results