Hendrickson CL - Search Results

1

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. Among authors: hendrickson cl. Brain. 2007 Jul;130(Pt 7):1929-41. doi: 10.1093/brain/awm100. Epub 2007 May 23. Brain. 2007. PMID: 17522105

2

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

3

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

4

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: hendrickson cl. Am J Hematol. 2011 Oct;86(10):827-34. doi: 10.1002/ajh.22118. Epub 2011 Aug 3. Am J Hematol. 2011. PMID: 21815188 Free article.

5

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 Free article.

6

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.

7

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 Free article. Clinical Trial.

8

Severe Salt-Losing 3β-Hydroxysteroid Dehydrogenase Deficiency: Treatment and Outcomes of HSD3B2 c.35G>A Homozygotes.

Benkert AR, Young M, Robinson D, Hendrickson C, Lee PA, Strauss KA. Benkert AR, et al. J Clin Endocrinol Metab. 2015 Aug;100(8):E1105-15. doi: 10.1210/jc.2015-2098. Epub 2015 Jun 16. J Clin Endocrinol Metab. 2015. PMID: 26079780

9

Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.

Bowser LE, Young M, Wenger OK, Ammous Z, Brigatti KW, Carson VJ, Moser T, Deline J, Aoki K, Morlet T, Scott EM, Puffenberger EG, Robinson DL, Hendrickson C, Salvin J, Gottlieb S, Heaps AD, Tiemeyer M, Strauss KA. Bowser LE, et al. Mol Genet Metab. 2019 Apr;126(4):475-488. doi: 10.1016/j.ymgme.2019.01.013. Epub 2019 Jan 21. Mol Genet Metab. 2019. PMID: 30691927

10

Immunologic and clinical features of 25 Amish patients with RMRP 70 A-->G cartilage hair hypoplasia.

Rider NL, Morton DH, Puffenberger E, Hendrickson CL, Robinson DL, Strauss KA. Rider NL, et al. Among authors: hendrickson cl. Clin Immunol. 2009 Apr;131(1):119-28. doi: 10.1016/j.clim.2008.11.001. Epub 2009 Jan 16. Clin Immunol. 2009. PMID: 19150606

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