Strauss KA - Search Results

1

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.

Motzek A, Knežević J, Switzeny OJ, Cooper A, Barić I, Beluzić R, Strauss KA, Puffenberger EG, Mudd SH, Vugrek O, Zechner U. Motzek A, et al. Among authors: strauss ka. PLoS One. 2016 Mar 14;11(3):e0151261. doi: 10.1371/journal.pone.0151261. eCollection 2016. PLoS One. 2016. PMID: 26974671 Free PMC article. Clinical Trial.

2

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: strauss ka. Pediatrics. 2002 Jun;109(6):999-1008. doi: 10.1542/peds.109.6.999. Pediatrics. 2002. PMID: 12042535

3

Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria.

Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH. Kelley RI, et al. Among authors: strauss ka. Am J Med Genet. 2002 Nov 1;112(4):318-26. doi: 10.1002/ajmg.10529. Am J Med Genet. 2002. PMID: 12376931

4

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. Among authors: strauss ka. 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

5

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

6

Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function.

Puffenberger EG, Hu-Lince D, Parod JM, Craig DW, Dobrin SE, Conway AR, Donarum EA, Strauss KA, Dunckley T, Cardenas JF, Melmed KR, Wright CA, Liang W, Stafford P, Flynn CR, Morton DH, Stephan DA. Puffenberger EG, et al. Among authors: strauss ka. Proc Natl Acad Sci U S A. 2004 Aug 10;101(32):11689-94. doi: 10.1073/pnas.0401194101. Epub 2004 Jul 23. Proc Natl Acad Sci U S A. 2004. PMID: 15273283 Free PMC article.

7

Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.

Strauss KA, Puffenberger EG, Craig DW, Panganiban CB, Lee AM, Hu-Lince D, Stephan DA, Morton DH. Strauss KA, et al. Am J Med Genet A. 2005 Oct 15;138A(3):262-7. doi: 10.1002/ajmg.a.30961. Am J Med Genet A. 2005. PMID: 16158439

8

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

9

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.

10

Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2.

Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH. Strauss KA, et al. N Engl J Med. 2006 Mar 30;354(13):1370-7. doi: 10.1056/NEJMoa052773. N Engl J Med. 2006. PMID: 16571880 Free article.

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