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Maternal glutaric acidemia, type I identified by newborn screening.
Crombez EA, Cederbaum SD, Spector E, Chan E, Salazar D, Neidich J, Goodman S. Crombez EA, et al. Among authors: cederbaum sd. Mol Genet Metab. 2008 May;94(1):132-4. doi: 10.1016/j.ymgme.2008.01.005. Epub 2008 Mar 4. Mol Genet Metab. 2008. PMID: 18304851 Free PMC article.
Hyperargininemia due to liver arginase deficiency.
Crombez EA, Cederbaum SD. Crombez EA, et al. Among authors: cederbaum sd. Mol Genet Metab. 2005 Mar;84(3):243-51. doi: 10.1016/j.ymgme.2004.11.004. Epub 2004 Dec 19. Mol Genet Metab. 2005. PMID: 15694174 Review.
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
Gallant NM, Leydiker K, Tang H, Feuchtbaum L, Lorey F, Puckett R, Deignan JL, Neidich J, Dorrani N, Chang E, Barshop BA, Cederbaum SD, Abdenur JE, Wang RY. Gallant NM, et al. Among authors: cederbaum sd. Mol Genet Metab. 2012 May;106(1):55-61. doi: 10.1016/j.ymgme.2012.02.007. Epub 2012 Feb 9. Mol Genet Metab. 2012. PMID: 22424739
Ornithine deficiency in the arginase double knockout mouse.
Deignan JL, Livesay JC, Yoo PK, Goodman SI, O'Brien WE, Iyer RK, Cederbaum SD, Grody WW. Deignan JL, et al. Among authors: cederbaum sd. Mol Genet Metab. 2006 Sep-Oct;89(1-2):87-96. doi: 10.1016/j.ymgme.2006.04.007. Epub 2006 Jun 5. Mol Genet Metab. 2006. PMID: 16753325
Expanded newborn screening identifies maternal primary carnitine deficiency.
Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N. Schimmenti LA, et al. Mol Genet Metab. 2007 Apr;90(4):441-5. doi: 10.1016/j.ymgme.2006.10.003. Epub 2006 Nov 28. Mol Genet Metab. 2007. PMID: 17126586
199 results