Glycoproteins and glycolipids carrying diverse oligosaccharide structures are involved in countless molecular interactions in physiologic and pathologic situations. Defining the specific carbohydrate moieties expressed in a particular set of molecules is a challenging task that could eventually explain how glycoproteins and glycolipids contribute to the physiology of normal cells and how their alterations could lead to pathologic states. A simple example is the ABO blood group system: in individuals with blood group B, the marker is defined by its terminal linked galactose, and substitution of its hydroxyl group at C2 by an N-acetyl group results in the formation of N-acetylgalactosamine, the blood group A marker. This review focuses on the...
Long-term outcomes of classic galactosemia (GAL) remain disappointing. It is unclear if the complica...
N-glycan processing and assembly defects have been demonstrated in untreated and partially treated p...
A variety of genetic variations in the <i>galactose-1-phosphate uridyltransferase </i>(<i>GALT</i>) ...
Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy producti...
A sugar is a polyalcohol with at least one of them oxidized to either an aldehyde or a ketone. As a ...
Glycoconjugates are involved in the vital physiological functions including blood group determinatio...
Background: Clinical outcome of patients with a classical presentation of galactosemia (classical pa...
Since the first description of galactosemia in 1908 and despite decades of research, the pathophysio...
The possibility to alter the cell surface carbohydrate expression by insertion or deletion of glycos...
Classical galactosemia (CG) is one of the more frequent inborn errors of metabolism affecting approx...
The carbohydrate-deficient glycoprotein syndromes (CDGS) and galactosaemia are autosomal recessive d...
Phosphoglucomutase 1 (PGM1) encodes the metabolic enzyme that interconverts glucose-6-P and glucose-...
Addendum pasted inside the back end-paper.x, 179 leavesThis thesis presents a hypothesis that there ...
Background: Classical galactosemia (CG) (OMIM #230400) is a rare disorder of carbohydrate metabolism...
Summary: Milk sugar is composed of glucose and galactose. Galactose is less suitable as an energy so...
Long-term outcomes of classic galactosemia (GAL) remain disappointing. It is unclear if the complica...
N-glycan processing and assembly defects have been demonstrated in untreated and partially treated p...
A variety of genetic variations in the <i>galactose-1-phosphate uridyltransferase </i>(<i>GALT</i>) ...
Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy producti...
A sugar is a polyalcohol with at least one of them oxidized to either an aldehyde or a ketone. As a ...
Glycoconjugates are involved in the vital physiological functions including blood group determinatio...
Background: Clinical outcome of patients with a classical presentation of galactosemia (classical pa...
Since the first description of galactosemia in 1908 and despite decades of research, the pathophysio...
The possibility to alter the cell surface carbohydrate expression by insertion or deletion of glycos...
Classical galactosemia (CG) is one of the more frequent inborn errors of metabolism affecting approx...
The carbohydrate-deficient glycoprotein syndromes (CDGS) and galactosaemia are autosomal recessive d...
Phosphoglucomutase 1 (PGM1) encodes the metabolic enzyme that interconverts glucose-6-P and glucose-...
Addendum pasted inside the back end-paper.x, 179 leavesThis thesis presents a hypothesis that there ...
Background: Classical galactosemia (CG) (OMIM #230400) is a rare disorder of carbohydrate metabolism...
Summary: Milk sugar is composed of glucose and galactose. Galactose is less suitable as an energy so...
Long-term outcomes of classic galactosemia (GAL) remain disappointing. It is unclear if the complica...
N-glycan processing and assembly defects have been demonstrated in untreated and partially treated p...
A variety of genetic variations in the <i>galactose-1-phosphate uridyltransferase </i>(<i>GALT</i>) ...