Gahl W - Search Results

1

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.

Schoch K, Esteves C, Bican A, Spillmann R, Cope H, McConkie-Rosell A, Walley N, Fernandez L, Kohler JN, Bonner D, Reuter C, Stong N, Mulvihill JJ, Novacic D, Wolfe L, Abdelbaki A, Toro C, Tifft C, Malicdan M, Gahl W, Liu P, Newman J, Goldstein DB, Hom J, Sampson J, Wheeler MT; Undiagnosed Diseases Network; Cogan J, Bernstein JA, Adams DR, McCray AT, Shashi V. Schoch K, et al. Among authors: gahl w. Genet Med. 2021 Feb;23(2):259-271. doi: 10.1038/s41436-020-00984-z. Epub 2020 Oct 23. Genet Med. 2021. PMID: 33093671 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

Pulsed amperometric detection of carbohydrates in lysosomal storage disease fibroblasts: a new screening technique for carbohydrate storage diseases.

Blom HJ, Andersson HC, Krasnewich DM, Gahl WA. Blom HJ, et al. Among authors: gahl wa. J Chromatogr. 1990 Nov 30;533:11-21. doi: 10.1016/s0378-4347(00)82183-0. J Chromatogr. 1990. PMID: 2081756

5

Swallowing dysfunction in nephropathic cystinosis.

Sonies BC, Ekman EF, Andersson HC, Adamson MD, Kaler SG, Markello TC, Gahl WA. Sonies BC, et al. Among authors: gahl wa. N Engl J Med. 1990 Aug 30;323(9):565-70. doi: 10.1056/NEJM199008303230903. N Engl J Med. 1990. PMID: 2381441 Free article.

6

Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.

Hahn SH, Krasnewich D, Brantly M, Kvittingen EA, Gahl WA. Hahn SH, et al. Among authors: gahl wa. Hum Mutat. 1995;6(1):66-73. doi: 10.1002/humu.1380060113. Hum Mutat. 1995. PMID: 7550234

7

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.

8

Copper effects on metal regulatory factors of cultured human fibroblasts.

Hahn SH, Gahl WA. Hahn SH, et al. Among authors: gahl wa. Biochem Med Metab Biol. 1993 Dec;50(3):346-57. doi: 10.1006/bmmb.1993.1075. Biochem Med Metab Biol. 1993. PMID: 8123298

9

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

10

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.

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