Gahl WA - Search Results

1

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine.

Pierson TM, Yuan H, Marsh ED, Fuentes-Fajardo K, Adams DR, Markello T, Golas G, Simeonov DR, Holloman C, Tankovic A, Karamchandani MM, Schreiber JM, Mullikin JC; PhD for the NISC Comparative Sequencing Program; Tifft CJ, Toro C, Boerkoel CF, Traynelis SF, Gahl WA. Pierson TM, et al. Among authors: gahl wa. Ann Clin Transl Neurol. 2014 Mar 1;1(3):190-198. doi: 10.1002/acn3.39. Ann Clin Transl Neurol. 2014. PMID: 24839611 Free PMC article.

2

Effect of growth hormone treatment on serum creatinine concentration in patients with cystinosis and chronic renal disease.

Andersson HC, Markello T, Schneider JA, Gahl WA. Andersson HC, et al. Among authors: gahl wa. J Pediatr. 1992 May;120(5):716-20. doi: 10.1016/s0022-3476(05)80233-1. J Pediatr. 1992. PMID: 1578305

3

High-performance liquid chromatography of lipids for the identification of human metabolic disease.

Markello TC, Guo J, Gahl WA. Markello TC, et al. Among authors: gahl wa. Anal Biochem. 1991 Nov 1;198(2):368-74. doi: 10.1016/0003-2697(91)90441-u. Anal Biochem. 1991. PMID: 1799224

4

Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis.

Kimonis VE, Troendle J, Rose SR, Yang ML, Markello TC, Gahl WA. Kimonis VE, et al. Among authors: gahl wa. J Clin Endocrinol Metab. 1995 Nov;80(11):3257-61. doi: 10.1210/jcem.80.11.7593434. J Clin Endocrinol Metab. 1995. PMID: 7593434 Clinical Trial.

5

Improved renal function in children with cystinosis treated with cysteamine.

Markello TC, Bernardini IM, Gahl WA. Markello TC, et al. Among authors: gahl wa. N Engl J Med. 1993 Apr 22;328(16):1157-62. doi: 10.1056/NEJM199304223281604. N Engl J Med. 1993. PMID: 8455682 Free article.

6

Hermansky-Pudlak syndrome type 1 in patients of Indian descent.

Vincent LM, Adams D, Hess RA, Ziegler SG, Tsilou E, Golas G, O'Brien KJ, White JG, Huizing M, Gahl WA. Vincent LM, et al. Among authors: gahl wa. Mol Genet Metab. 2009 Jul;97(3):227-33. doi: 10.1016/j.ymgme.2009.03.011. Epub 2009 Apr 2. Mol Genet Metab. 2009. PMID: 19398212 Free PMC article.

7

Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6.

Huizing M, Pederson B, Hess RA, Griffin A, Helip-Wooley A, Westbroek W, Dorward H, O'Brien KJ, Golas G, Tsilou E, White JG, Gahl WA. Huizing M, et al. Among authors: gahl wa. J Med Genet. 2009 Dec;46(12):803-10. doi: 10.1136/jmg.2008.065961. Epub 2009 Oct 20. J Med Genet. 2009. PMID: 19843503 Free PMC article.

8

Chediak-Higashi syndrome with early developmental delay resulting from paternal heterodisomy of chromosome 1.

Manoli I, Golas G, Westbroek W, Vilboux T, Markello TC, Introne W, Maynard D, Pederson B, Tsilou E, Jordan MB, Hart PS, White JG, Gahl WA, Huizing M. Manoli I, et al. Among authors: gahl wa. Am J Med Genet A. 2010 Jun;152A(6):1474-83. doi: 10.1002/ajmg.a.33389. Am J Med Genet A. 2010. PMID: 20503323 Free PMC article.

9

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.

Vincent LM, Gilbert F, DiPace JI, Ciccone C, Markello TC, Jeong A, Dorward H, Westbroek W, Gahl WA, Bussel JB, Huizing M. Vincent LM, et al. Among authors: gahl wa. Mol Genet Metab. 2010 Sep;101(1):62-5. doi: 10.1016/j.ymgme.2010.05.015. Epub 2010 Jun 10. Mol Genet Metab. 2010. PMID: 20591709 Free PMC article.

10

Novel mutations in the HPS1 gene among Puerto Rican patients.

Carmona-Rivera C, Hess RA, O'Brien K, Golas G, Tsilou E, White JG, Gahl WA, Huizing M. Carmona-Rivera C, et al. Among authors: gahl wa. Clin Genet. 2011 Jun;79(6):561-7. doi: 10.1111/j.1399-0004.2010.01491.x. Clin Genet. 2011. PMID: 20662851

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