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Management of hyperbilirubinemia and prevention of kernicterus in 20 patients with Crigler-Najjar disease.
Strauss KA, Robinson DL, Vreman HJ, Puffenberger EG, Hart G, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. Eur J Pediatr. 2006 May;165(5):306-19. doi: 10.1007/s00431-005-0055-2. Epub 2006 Jan 25. Eur J Pediatr. 2006. PMID: 16435131
Type I glutaric aciduria, part 1: natural history of 77 patients.
Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):38-52. doi: 10.1002/ajmg.c.20007. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888985
Management of Congenital Heart Disease Associated with Ellis-van Creveld Short-rib Thoracic Dysplasia.
Chowdhury D, Williams KB, Chidekel A, Pizarro C, Preedy C, Young M, Hendrickson C, Robinson DL, Kreiger PA, Puffenberger EG, Strauss KA. Chowdhury D, et al. Among authors: puffenberger eg. J Pediatr. 2017 Dec;191:145-151. doi: 10.1016/j.jpeds.2017.08.073. J Pediatr. 2017. PMID: 29173298
Prevention of brain disease from severe 5,10-methylenetetrahydrofolate reductase deficiency.
Strauss KA, Morton DH, Puffenberger EG, Hendrickson C, Robinson DL, Wagner C, Stabler SP, Allen RH, Chwatko G, Jakubowski H, Niculescu MD, Mudd SH. Strauss KA, et al. Among authors: puffenberger eg. Mol Genet Metab. 2007 Jun;91(2):165-75. doi: 10.1016/j.ymgme.2007.02.012. Epub 2007 Apr 3. Mol Genet Metab. 2007. PMID: 17409006
Erythrocyte pyruvate kinase deficiency in an old-order Amish cohort: longitudinal risk and disease management.
Rider NL, Strauss KA, Brown K, Finkenstedt A, Puffenberger EG, Hendrickson CL, Robinson DL, Muenke N, Tselepis C, Saunders L, Zoller H, Morton DH. Rider NL, et al. Among authors: puffenberger eg. Am J Hematol. 2011 Oct;86(10):827-34. doi: 10.1002/ajh.22118. Epub 2011 Aug 3. Am J Hematol. 2011. PMID: 21815188
Diagnosis and treatment of maple syrup disease: a study of 36 patients.
Morton DH, Strauss KA, Robinson DL, Puffenberger EG, Kelley RI. Morton DH, et al. Among authors: puffenberger eg. Pediatrics. 2002 Jun;109(6):999-1008. doi: 10.1542/peds.109.6.999. Pediatrics. 2002. PMID: 12042535
One community's effort to control genetic disease.
Strauss KA, Puffenberger EG, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. Am J Public Health. 2012 Jul;102(7):1300-6. doi: 10.2105/AJPH.2011.300569. Epub 2012 May 17. Am J Public Health. 2012. PMID: 22594747 Free PMC article.
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx.
Strauss KA, Brumbaugh J, Duffy A, Wardley B, Robinson D, Hendrickson C, Tortorelli S, Moser AB, Puffenberger EG, Rider NL, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. Mol Genet Metab. 2011 Sep-Oct;104(1-2):93-106. doi: 10.1016/j.ymgme.2011.07.003. Epub 2011 Jul 12. Mol Genet Metab. 2011. PMID: 21820344 Clinical Trial.
Classical maple syrup urine disease and brain development: principles of management and formula design.
Strauss KA, Wardley B, Robinson D, Hendrickson C, Rider NL, Puffenberger EG, Shellmer D, Moser AB, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. Mol Genet Metab. 2010 Apr;99(4):333-45. doi: 10.1016/j.ymgme.2009.12.007. Epub 2010 Jan 12. Mol Genet Metab. 2010. PMID: 20061171 Free PMC article. Clinical Trial.
Elective liver transplantation for the treatment of classical maple syrup urine disease.
Strauss KA, Mazariegos GV, Sindhi R, Squires R, Finegold DN, Vockley G, Robinson DL, Hendrickson C, Virji M, Cropcho L, Puffenberger EG, McGhee W, Seward LM, Morton DH. Strauss KA, et al. Among authors: puffenberger eg. Am J Transplant. 2006 Mar;6(3):557-64. doi: 10.1111/j.1600-6143.2005.01209.x. Am J Transplant. 2006. PMID: 16468966
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