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Branched-chain Ketoacyl Dehydrogenase Deficiency: Maple Syrup Disease.
Strauss KA, Morton DH. Strauss KA, et al. Curr Treat Options Neurol. 2003 Jul;5(4):329-341. doi: 10.1007/s11940-003-0039-3. Curr Treat Options Neurol. 2003. PMID: 12791200
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
Pediatric medicine and the genetic disorders of the Amish and Mennonite people of Pennsylvania.
Morton DH, Morton CS, Strauss KA, Robinson DL, Puffenberger EG, Hendrickson C, Kelley RI. Morton DH, et al. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):5-17. doi: 10.1002/ajmg.c.20002. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888982
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
Type I glutaric aciduria, part 2: a model of acute striatal necrosis.
Strauss KA, Morton DH. Strauss KA, et al. Am J Med Genet C Semin Med Genet. 2003 Aug 15;121C(1):53-70. doi: 10.1002/ajmg.c.20008. Am J Med Genet C Semin Med Genet. 2003. PMID: 12888986
Glutaric aciduria type 1: a clinician's view of progress.
Strauss KA. Strauss KA. Brain. 2005 Apr;128(Pt 4):697-9. doi: 10.1093/brain/awh482. Brain. 2005. PMID: 15788552 No abstract available.
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
Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5.
Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH. Puffenberger EG, et al. Brain. 2007 Jul;130(Pt 7):1929-41. doi: 10.1093/brain/awm100. Epub 2007 May 23. Brain. 2007. PMID: 17522105
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