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Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework.
Potter BK, Chakraborty P, Kronick JB, Wilson K, Coyle D, Feigenbaum A, Geraghty MT, Karaceper MD, Little J, Mhanni A, Mitchell JJ, Siriwardena K, Wilson BJ, Syrowatka A; Canadian Inherited Metabolic Diseases Research Network. Potter BK, et al. Among authors: chakraborty p. Genet Med. 2013 Jun;15(6):415-22. doi: 10.1038/gim.2012.153. Epub 2012 Dec 6. Genet Med. 2013. PMID: 23222662 Free PMC article. Review.
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A. Arnold GL, et al. Among authors: chakraborty p. Mol Genet Metab. 2009 Mar;96(3):85-90. doi: 10.1016/j.ymgme.2008.09.008. Epub 2009 Jan 20. Mol Genet Metab. 2009. PMID: 19157942 Free PMC article.
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.
Al-Dirbashi OY, Kölker S, Ng D, Fisher L, Rupar T, Lepage N, Rashed MS, Santa T, Goodman SI, Geraghty MT, Zschocke J, Christensen E, Hoffmann GF, Chakraborty P. Al-Dirbashi OY, et al. Among authors: chakraborty p. J Inherit Metab Dis. 2011 Feb;34(1):173-80. doi: 10.1007/s10545-010-9223-2. Epub 2010 Oct 27. J Inherit Metab Dis. 2011. PMID: 20978942
1,553 results