Golgi Glycosylation and Human Inherited Diseases

od Freeze, Hudson H., Ng, Bobby G.
Izdano 2011

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

od Ng, Bobby G., Freeze, Hudson H.
izdano v J Inherit Metab Dis (2014)

Perspectives on Glycosylation and its Congenital Disorders

od Ng, Bobby G., Freeze, Hudson H.
izdano v Trends Genet (2018)

Therapeutic Monosaccharides: Looking Back, Moving Forward

od Sosicka, Paulina, Ng, Bobby G., Freeze, Hudson H.
izdano v Biochemistry (2019)

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

od Freeze, Hudson H., Chong, Jessica X., Bamshad, Michael J., Ng, Bobby G.
Izdano 2014

NEUROLOGICAL ASPECTS OF HUMAN GLYCOSYLATION DISORDERS

od Freeze, Hudson H., Eklund, Erik A., Ng, Bobby G., Patterson, Marc C.
izdano v Annu Rev Neurosci (2015)

Identification of Intercellular Cell Adhesion Molecule 1 (ICAM-1) as a Hypoglycosylation Marker in Congenital Disorders of Glycosylation Cells

od He, Ping, Ng, Bobby G., Losfeld, Marie-Estelle, Zhu, Wenhong, Freeze, Hudson H.
Izdano 2012

A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy

od Losfeld, Marie-Estelle, Soncin, Francesca, Ng, Bobby G., Singec, Ilyas, Freeze, Hudson H.
Izdano 2012

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation

od Shrimal, Shiteshu, Ng, Bobby G., Losfeld, Marie-Estelle, Gilmore, Reid, Freeze, Hudson H.
Izdano 2013

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc(2) is a biomarker of ALG1-CDG

od Bengtson, Per, Ng, Bobby G., Jaeken, Jaak, Matthijs, Gert, Freeze, Hudson H., Eklund, Erik A.
izdano v J Inherit Metab Dis (2015)

Dissecting Functions of the Conserved Oligomeric Golgi Tethering Complex Using a Cell-Free Assay

od Cottam, Nathanael P, Wilson, Katherine M, Ng, Bobby G, Körner, Christian, Freeze, Hudson H, Ungar, Daniel
Izdano 2014

Identification of the first COG-CDG patient of Indian Origin

od Ng, Bobby G., Sharma, Vandana, Sun, Liangwu, Loh, Eva, Hong, Wanjin, Tay, Stacey K.H., Freeze, Hudson H.
Izdano 2010

Phosphomannose Isomerase Inhibitors Improve N-Glycosylation in Selected Phosphomannomutase-deficient Fibroblasts

od Sharma, Vandana, Ichikawa, Mie, He, Ping, Bravo, Yalda, Dahl, Russell, Ng, Bobby G., Cosford, Nicholas D. P., Freeze, Hudson H.
Izdano 2011

Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors

od Ng, Bobby G., Wolfe, Lynne A., Ichikawa, Mie, Markello, Thomas, He, Miao, Tifft, Cynthia J., Gahl, William A., Freeze, Hudson H.
izdano v Hum Mol Genet (2015)

A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts

od He, Ping, Grotzke, Jeff E, Ng, Bobby G, Gunel, Murat, Jafar-Nejad, Hamed, Cresswell, Peter, Enns, Gregory M, Freeze, Hudson H
izdano v Glycobiology (2015)

ALG11-CDG syndrome: expanding the phenotype

od Haanpää, Maria K, Ng, Bobby G., Gallant, Natalie M., Singh, Kathryn E., Brown, Candida, Kimonis, Virginia, Freeze, Hudson H., Muller, Eric
izdano v Am J Med Genet A (2019)

Arrest of Fetal Brain Development in ALG11-Congenital Disorder of Glycosylation

od Mulkey, Sarah B., Ng, Bobby G., Vezina, Gilbert L., Bulas, Dorothy I., Wolfe, Lynne A., Freeze, Hudson H., Ferreira, Carlos R.
izdano v Pediatr Neurol (2018)

Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.

od Sharma, Vandana, Ichikawa, Mie, He, Ping, Scott, David A., Bravo, Yalda, Dahl, Russell, Ng, Bobby G., Cosford, Nicholas D. P., Freeze, Hudson H.
Izdano 2011

MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

od Abdel Ghaffar, Tawhida Y., Ng, Bobby G., Elsayed, Solaf M., El Naghi, Suzan, Helmy, Sarah, Mohammed, Nermine, El Hennawy, Ahmed, Freeze, Hudson H.
izdano v JIMD Rep (2020)

Molecular and Clinical Characterization of a Moroccan Cog7 Deficient Patient

od Ng, Bobby G., Kranz, Christian, Hagebeuk, EEO, Duran, M, Abeling, NGGM, Wuyts, B, Ungar, Daniel, Lupashin, Vladimir, Hartdorff, CM, Poll-The, BT, Freeze, Hudson H.
Izdano 2007