 |
Donna M. Krasnewich, M.D., Ph.D.
Selected Publications
Krasnewich D.M, Holt G.D., Brantly M., Skovby F., Redwine J., Gahl W.A. Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome. Glycobiology, 5(5):503-510. 1995. [PubMed]
Krasnewich D.M., Gahl W.A. Carbohydrate-deficient glycoprotein syndrome. Adv Pediatr, 44:109-140. 1997. [PubMed]
Krasnewich D.M., Dietrich K., Bauer L., Ginns E.I., Sidransky E., Hill S. Splenectomy in Gaucher disease: new management dilemmas. Blood, 91(8):3085-3087. 1998. [PubMed]
Aebi M, Helenius A, ... Krasnewich D, et al. Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J, 16(11):669-71. 1999. [PubMed]
Pearl P.L., Krasnewich D. Neurologic course of congenital disorders of glycosylation. J Child Neurol, 16 (6): 409-413. 2001. [PubMed]
Orvisky E., Stubblefield B., Long R.T., Martin B., Sidransky, E., Krasnewich D. Phosphomannomutase Activity in Congenital Disorders of Glycosylation Type 1a determined by Direct Analysis of the Interconversion of Mannose-1-Phosphate to Mannose-6-Phosphate by High-pH-Anion-Exchange chromatography with Pulsed Amperometric Detection. Analytical Biochemistry. 317(1):12-8. 2003. [PubMed]
Huizing M., Rakocevic G, Sparks S, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to BNE mutations. Mol Genet Metab 81:196-202, 2004. [PubMed]
Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA. Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. Mol Genet Metab 82:137-143, 2004. [Full Text] 
To view this PDF you will need Adobe Acrobat Reader. 
Last Reviewed: September 19, 2008
|
|
Copyright
Print Version