Holden KR - Search Results

1

Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency.

Pollard LM, Williams NR, Espinoza L, Wood TC, Spector EB, Schroer RJ, Holden KR. Pollard LM, et al. Among authors: holden kr. J Child Neurol. 2010 Aug;25(8):954-60. doi: 10.1177/0883073809351984. Epub 2009 Dec 18. J Child Neurol. 2010. PMID: 20023066

2

Early onset alpha-mannosidosis with slow progression in three Hispanic males.

Lyons MJ, Wood T, Espinoza L, Stensland HM, Holden KR. Lyons MJ, et al. Among authors: holden kr. Dev Med Child Neurol. 2007 Nov;49(11):854-7. doi: 10.1111/j.1469-8749.2007.00854.x. Dev Med Child Neurol. 2007. PMID: 17979865 Free article.

3

Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant.

Giurgiutiu DV, Espinoza LM, Wood TC, DuPont BR, Holden KR. Giurgiutiu DV, et al. Among authors: holden kr. J Child Neurol. 2008 Jan;23(1):112-7. doi: 10.1177/0883073807307979. J Child Neurol. 2008. PMID: 18184946

4

Utilization of blood spot testing for metabolic-genetic disorders in Honduras: is it time for newborn screening?

Slaughter JL, Espinoza L, Molinero I, Wood TC, Duron C, Flores A, Porter R, Tomashitis K, Holden KR. Slaughter JL, et al. Among authors: holden kr. J Child Neurol. 2010 Mar;25(3):306-11. doi: 10.1177/0883073809339059. Epub 2009 Oct 21. J Child Neurol. 2010. PMID: 19850562

5

Severe Hunter syndrome (mucopolysaccharidosis II) phenotype secondary to large deletion in the X chromosome encompassing IDS, FMR1, and AFF2 (FMR2).

Burruss DM, Wood TC, Espinoza L, Dwivedi A, Holden KR. Burruss DM, et al. Among authors: holden kr. J Child Neurol. 2012 Jun;27(6):786-90. doi: 10.1177/0883073811425860. Epub 2011 Dec 21. J Child Neurol. 2012. PMID: 22190500

6

X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28.

Hahn KA, Salomons GS, Tackels-Horne D, Wood TC, Taylor HA, Schroer RJ, Lubs HA, Jakobs C, Olson RL, Holden KR, Stevenson RE, Schwartz CE. Hahn KA, et al. Among authors: holden kr. Am J Hum Genet. 2002 May;70(5):1349-56. doi: 10.1086/340092. Epub 2002 Mar 15. Am J Hum Genet. 2002. PMID: 11898126 Free PMC article.

7

Natural history of Christianson syndrome.

Schroer RJ, Holden KR, Tarpey PS, Matheus MG, Griesemer DA, Friez MJ, Fan JZ, Simensen RJ, Strømme P, Stevenson RE, Stratton MR, Schwartz CE. Schroer RJ, et al. Among authors: holden kr. Am J Med Genet A. 2010 Nov;152A(11):2775-83. doi: 10.1002/ajmg.a.33093. Am J Med Genet A. 2010. PMID: 20949524 Free PMC article.

8

X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.

Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE. Cason AL, et al. Among authors: holden kr. Eur J Hum Genet. 2003 Dec;11(12):937-44. doi: 10.1038/sj.ejhg.5201072. Eur J Hum Genet. 2003. PMID: 14508504

9

X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype.

Holden KR, Zuñiga OF, May MM, Su H, Molinero MR, Rogers RC, Schwartz CE. Holden KR, et al. J Child Neurol. 2005 Oct;20(10):852-7. doi: 10.1177/08830738050200101601. J Child Neurol. 2005. PMID: 16417886

10

Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies.

Matheus MG, Lehman RK, Bonilha L, Holden KR. Matheus MG, et al. Among authors: holden kr. J Child Neurol. 2015 Oct;30(12):1664-8. doi: 10.1177/0883073815578524. Epub 2015 Apr 21. J Child Neurol. 2015. PMID: 25900139

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