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Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney.
Zsengellér ZK, Aljinovic N, Teot LA, Korson M, Rodig N, Sloan JL, Venditti CP, Berry GT, Rosen S. Zsengellér ZK, et al. Among authors: korson m. Pediatr Nephrol. 2014 Nov;29(11):2139-46. doi: 10.1007/s00467-014-2847-y. Epub 2014 May 28. Pediatr Nephrol. 2014. PMID: 24865477
Clinical genetic testing for patients with autism spectrum disorders.
Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration. Shen Y, et al. Pediatrics. 2010 Apr;125(4):e727-35. doi: 10.1542/peds.2009-1684. Epub 2010 Mar 15. Pediatrics. 2010. PMID: 20231187 Free PMC article.
New England Consortium: a model for medical evaluation of expanded newborn screening with tandem mass spectrometry.
Albers S, Waisbren SE, Ampola MG, Brewster TG, Burke LW, Demmer LA, Filiano J, Greenstein RM, Ingham CL, Korson MS, Marsden D, Schwartz RC, Seashore MR, Shih VE, Levy HL. Albers S, et al. Among authors: korson ms. J Inherit Metab Dis. 2001 Apr;24(2):303-4. doi: 10.1023/a:1010391623104. J Inherit Metab Dis. 2001. PMID: 11405349 No abstract available.
49 results