Krasnewich D - Search Results

1

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation.

Lam C, Ferreira C, Krasnewich D, Toro C, Latham L, Zein WM, Lehky T, Brewer C, Baker EH, Thurm A, Farmer CA, Rosenzweig SD, Lyons JJ, Schreiber JM, Gropman A, Lingala S, Ghany MG, Solomon B, Macnamara E, Davids M, Stratakis CA, Kimonis V, Gahl WA, Wolfe L. Lam C, et al. Among authors: krasnewich d. Genet Med. 2017 Feb;19(2):160-168. doi: 10.1038/gim.2016.75. Epub 2016 Jul 7. Genet Med. 2017. PMID: 27388694 Free PMC article.

2

Sialic acid metabolism in sialuria fibroblasts.

Seppala R, Tietze F, Krasnewich D, Weiss P, Ashwell G, Barsh G, Thomas GH, Packman S, Gahl WA. Seppala R, et al. Among authors: krasnewich d. J Biol Chem. 1991 Apr 25;266(12):7456-61. J Biol Chem. 1991. PMID: 2019577 Free article.

3

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: krasnewich dm. J Chromatogr. 1990 Nov 30;533:11-21. doi: 10.1016/s0378-4347(00)82183-0. J Chromatogr. 1990. PMID: 2081756

4

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: krasnewich d. Hum Mutat. 1995;6(1):66-73. doi: 10.1002/humu.1380060113. Hum Mutat. 1995. PMID: 7550234

5

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: krasnewich dm. Pediatr Res. 1993 Aug;34(2):115-9. doi: 10.1203/00006450-199308000-00001. Pediatr Res. 1993. PMID: 8233709

6

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

7

Classic nephropathic cystinosis as an adult disease.

Theodoropoulos DS, Krasnewich D, Kaiser-Kupfer MI, Gahl WA. Theodoropoulos DS, et al. Among authors: krasnewich d. JAMA. 1993 Nov 10;270(18):2200-4. JAMA. 1993. PMID: 8411603

8

Clinical and biochemical studies in an American child with sialuria.

Krasnewich DM, Tietze F, Krause W, Pretzlaff R, Wenger DA, Diwadkar V, Gahl WA. Krasnewich DM, et al. Biochem Med Metab Biol. 1993 Feb;49(1):90-6. doi: 10.1006/bmmb.1993.1010. Biochem Med Metab Biol. 1993. PMID: 8439453

9

Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.

Krasnewich DM, Holt GD, Brantly M, Skovby F, Redwine J, Gahl WA. Krasnewich DM, et al. Glycobiology. 1995 Jul;5(5):503-10. doi: 10.1093/glycob/5.5.503. Glycobiology. 1995. PMID: 8563136

10

Carbohydrate-deficient glycoprotein syndrome.

Krasnewich D, Gahl WA. Krasnewich D, et al. Adv Pediatr. 1997;44:109-40. Adv Pediatr. 1997. PMID: 9265969 Review.

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