Freeze, Hudson H.

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

Niehues, R., Hasilik, M., Alton, G., Körner, C., Schiebe-Sukumar, M., Koch, H. G., Zimmer, K. P., Wu, R., Harms, E., Reiter, K., et al. (1998) · Journal of Clinical Investigation

Glycogen Storage Diseases and MyoclonusLysosomal Storage Disorders Research

Cited by 422

SRD5A3 Is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., et al. (2010) · Cell

Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus

Cited by 309

Correction of leukocyte adhesion deficiency type II with oral fucose

Marquardt, T., Lühn, K., Srikrishna, G., Freeze, H. H., Harms, E., & Vestweber, D. (1999) · Blood

Immunodeficiency and Autoimmune DisordersMetabolism and Genetic Disorders

Cited by 280

Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge

Freeze, H. H. (2013) · Journal of Biological Chemistry

Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Cited by 213

Update and perspectives on congenital disorders of glycosylation

Freeze, H. H. (2001) · Glycobiology

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research

Cited by 156

Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts.

Panneerselvam, K., & Freeze, H. H. (1996) · Journal of Clinical Investigation

Glycosylation and Glycoproteins ResearchLysosomal Storage Disorders Research

Cited by 146

Thermostable Aldolase from Thermus aquaticus

Freeze, H., & Brock, T. D. (1970) · Journal of Bacteriology

Enzyme Production and CharacterizationEnzyme Catalysis and Immobilization

Cited by 67

Mannose supplementation corrects GDP-mannose deficiency in cultured fibroblasts from some patients with Congenital Disorders of Glycosylation (CDG)

Rush, J. S., Panneerselvam, K., Waechter, C. J., & Freeze, H. H. (2000) · Glycobiology

Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and Myoclonus

Cited by 63

Shake up conferences

Silberberg, S. D., Crawford, D. C., Finkelstein, R., Koroshetz, W. J., Blank, R. D., Freeze, H. H., Garrison, H. H., & Seger, Y. R. (2017) · Nature

Academic Publishing and Open AccessConferences and Exhibitions Management

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