Gahl WA - Search Results

1

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.

Yuan H, Hansen KB, Zhang J, Pierson TM, Markello TC, Fajardo KV, Holloman CM, Golas G, Adams DR, Boerkoel CF, Gahl WA, Traynelis SF. Yuan H, et al. Among authors: gahl wa. Nat Commun. 2014;5:3251. doi: 10.1038/ncomms4251. Nat Commun. 2014. PMID: 24504326 Free PMC article.

2

Parenchymal organ cystine depletion with long-term cysteamine therapy.

Gahl WA, Charnas L, Markello TC, Bernardini I, Ishak KG, Dalakas MC. Gahl WA, et al. Biochem Med Metab Biol. 1992 Dec;48(3):275-85. doi: 10.1016/0885-4505(92)90074-9. Biochem Med Metab Biol. 1992. PMID: 1476793

3

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

4

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

5

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.

6

Clinical biochemical and pathologic correlations in Bietti's crystalline dystrophy.

Kaiser-Kupfer MI, Chan CC, Markello TC, Crawford MA, Caruso RC, Csaky KG, Guo J, Gahl WA. Kaiser-Kupfer MI, et al. Among authors: gahl wa. Am J Ophthalmol. 1994 Nov 15;118(5):569-82. doi: 10.1016/s0002-9394(14)76572-9. Am J Ophthalmol. 1994. PMID: 7977570

7

Muscle carnitine repletion by long-term carnitine supplementation in nephropathic cystinosis.

Gahl WA, Bernardini IM, Dalakas MC, Markello TC, Krasnewich DM, Charnas LR. Gahl WA, et al. Pediatr Res. 1993 Aug;34(2):115-9. doi: 10.1203/00006450-199308000-00001. Pediatr Res. 1993. PMID: 8233709

8

Redox, transferrin-independent, and receptor-mediated endocytosis iron uptake systems in cultured human fibroblasts.

Oshiro S, Nakajima H, Markello T, Krasnewich D, Bernardini I, Gahl WA. Oshiro S, et al. Among authors: gahl wa. J Biol Chem. 1993 Oct 15;268(29):21586-91. J Biol Chem. 1993. PMID: 8408010 Free article.

9

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.

10

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.

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