Markello TC - Search Results

1

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA. Lam C, et al. Among authors: markello tc. Mol Genet Metab. 2015 Jun-Jul;115(2-3):128-140. doi: 10.1016/j.ymgme.2015.04.007. Epub 2015 May 1. Mol Genet Metab. 2015. PMID: 25943031 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. Among authors: markello tc. 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. 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. 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: markello tc. 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

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. Among authors: markello tc. Pediatr Res. 1993 Aug;34(2):115-9. doi: 10.1203/00006450-199308000-00001. Pediatr Res. 1993. PMID: 8233709

7

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. J Biol Chem. 1993 Oct 15;268(29):21586-91. J Biol Chem. 1993. PMID: 8408010 Free article.

8

Improved renal function in children with cystinosis treated with cysteamine.

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

9

The metabolism of fatty acids in human Bietti crystalline dystrophy.

Lee J, Jiao X, Hejtmancik JF, Kaiser-Kupfer M, Gahl WA, Markello TC, Guo J, Chader GJ. Lee J, et al. Among authors: markello tc. Invest Ophthalmol Vis Sci. 2001 Jul;42(8):1707-14. Invest Ophthalmol Vis Sci. 2001. PMID: 11431432

10

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

Rouhani FN, Brantly ML, Markello TC, Helip-Wooley A, O'Brien K, Hess R, Huizing M, Gahl WA, Gochuico BR. Rouhani FN, et al. Among authors: markello tc. Am J Respir Crit Care Med. 2009 Dec 1;180(11):1114-21. doi: 10.1164/rccm.200901-0023OC. Epub 2009 Sep 3. Am J Respir Crit Care Med. 2009. PMID: 19729668 Free PMC article.

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