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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. 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
Mean total bilirubin for the group was 16+/-5 mg/dl and increased with age by approximately 0.8 mg/dl per year. The molar ratio of bilirubin to albumin ranged from 0.17 to 0.75 (mean: 0.44). ...
Mean total bilirubin for the group was 16+/-5 mg/dl and increased with age by approximately 0.8 mg/dl per year. The molar rati …
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. Pediatrics. 2002 Jun;109(6):999-1008. doi: 10.1542/peds.109.6.999. Pediatrics. 2002. PMID: 12042535
Type I glutaric aciduria, part 1: natural history of 77 patients.
Strauss KA, Puffenberger EG, Robinson DL, Morton DH. Strauss KA, et al. 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
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. Am J Transplant. 2006 Mar;6(3):557-64. doi: 10.1111/j.1600-6143.2005.01209.x. Am J Transplant. 2006. PMID: 16468966
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. 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
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. 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.
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. Am J Hematol. 2011 Oct;86(10):827-34. doi: 10.1002/ajh.22118. Epub 2011 Aug 3. Am J Hematol. 2011. PMID: 21815188
Hemochromatosis affected 29% (n = 4) of adult patients, who had inappropriately normal serum hepcidin (34.5 ± 12.7 ng/mL) and GDF-15 (595 ± 335pg/mL) relative to hyperferritinemia (769 ± 595 mg/dL). ...
Hemochromatosis affected 29% (n = 4) of adult patients, who had inappropriately normal serum hepcidin (34.5 ± 12.7 ng/mL) and GDF-15 (595 ± …
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. 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.
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. J Pediatr. 2017 Dec;191:145-151. doi: 10.1016/j.jpeds.2017.08.073. J Pediatr. 2017. PMID: 29173298
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes.
Strauss KA, Carson VJ, Soltys K, Young ME, Bowser LE, Puffenberger EG, Brigatti KW, Williams KB, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Chopko S, Hailey J, Muelly ER, Shellmer DA, Radcliff Z, Rodrigues A, Loeven K, Heaps AD, Mazariegos GV, Morton DH. Strauss KA, et al. Among authors: robinson dl. Mol Genet Metab. 2020 Mar;129(3):193-206. doi: 10.1016/j.ymgme.2020.01.006. Epub 2020 Jan 16. Mol Genet Metab. 2020. PMID: 31980395 Free article.
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