Results 111 to 120 of about 3,704 (134)
Some of the next articles are maybe not open access.
MCN the American Journal of Maternal Child Nursing, 2018
Abstract Galactosemia is an inborn error of galactose metabolism that results from a deficiency in one of three enzymes, uridine diphosphate galactose 4'epimerase, galactokinase, or galactose-1-phosphate uridyltransferase (GALT). This article focuses on classical, clinical variant, and biochemical variant (Duarte) galactosemias caused by GALT
exaly +7 more sources
Abstract Galactosemia is an inborn error of galactose metabolism that results from a deficiency in one of three enzymes, uridine diphosphate galactose 4'epimerase, galactokinase, or galactose-1-phosphate uridyltransferase (GALT). This article focuses on classical, clinical variant, and biochemical variant (Duarte) galactosemias caused by GALT
exaly +7 more sources
Molecular Genetics and Metabolism, 2019
GALT deficiency is a rare genetic disorder of carbohydrate metabolism. Due to the decreased activity or absence of the enzyme galactose-1-phosphate uridylyltransferase (GALT), cells from affected individuals are unable to metabolize galactose normally.
Susan Waisbren +2 more
exaly +3 more sources
GALT deficiency is a rare genetic disorder of carbohydrate metabolism. Due to the decreased activity or absence of the enzyme galactose-1-phosphate uridylyltransferase (GALT), cells from affected individuals are unable to metabolize galactose normally.
Susan Waisbren +2 more
exaly +3 more sources
GALT deficiency causes UDP-hexose deficit in human galactosemic cells [PDF]
Glycobiology, 2003 Previously we reported that stable transfection of human UDP-glucose pyrophosphorylase (hUGP2) rescued galactose-1-phosphate uridyltransferase (GALT)-deficient yeast from "galactose toxicity." Here we test in human cell lines the hypothesis that galactose toxicity was caused by excess accumulation of galactose-1-phosphate (Gal-1-P), inhibition of hUGP2,
Kent Lai, L J Elsas
exaly +3 more sources
Human Immune Reactivity against Liver Sinusoidal Endothelial Cells from GalTα(1,3)GalT-Deficient Pigs [PDF]
Cell Transplantation, 2010 Elimination of galactose-α( 1 , 3 )galactose (Gal) expression in pig organs has been previously shown to prevent hyperacute xenograft rejection. However, naturally present antibodies to non-Gal epitopes activate endothelial cells, leading to acute humoral xenograft rejection.
Yaakov Nahmias +2 more
exaly +4 more sources
Subfertility and growth restriction in a new galactose-1 phosphate uridylyltransferase (GALT) - deficient mouse model [PDF]
European Journal of Human Genetics, 2014 The first GalT gene knockout (KO) mouse model for Classic Galactosemia (OMIM 230400) accumulated some galactose and its metabolites upon galactose challenge, but was seemingly fertile and symptom free. Here we constructed a new GalT gene-trapped mouse model by injecting GalT gene-trapped mouse embryonic stem cells into blastocysts, which were later ...
Tatiana Yuzyuk +2 more
exaly +3 more sources
URTICARIA, NAUSEA, AND VOMITING, IS THIS THE GALT ENZYME DEFICIENCY?
Annals of Allergy, Asthma & Immunology, 2018Introduction Galactosemia is a rare genetic disorder not frequently encountered in clinical practice. GALT enzyme deficiency is in the spectrum of non IgE mediated food intolerance. However, when encountered with symptoms consistent anaphylaxis, the possibility of an IgE mediated reaction should not be excluded.
R. Villarreal +2 more
openaire +1 more source
Somatic Cell Genetics, 1981
Control SV40-transformed human fibroblasts can be readily adapted to growth on medium containing galactose as sole hexose source (galactose-MEH). However, most cells from a line of SV40-transformed skin fibroblasts from a patient with galactosemia (galactose-1-phosphate uridylyltransferase (GALT) deficiency) died in galactose-MEM.
B Hoffman, Hoffman B, P A Benn
exaly +3 more sources
Control SV40-transformed human fibroblasts can be readily adapted to growth on medium containing galactose as sole hexose source (galactose-MEH). However, most cells from a line of SV40-transformed skin fibroblasts from a patient with galactosemia (galactose-1-phosphate uridylyltransferase (GALT) deficiency) died in galactose-MEM.
B Hoffman, Hoffman B, P A Benn
exaly +3 more sources
Clinica Chimica Acta, 2010
Three different types of galactosemia have been described, and the most common form occurs due to a deficiency in the galactose-1-phosphate uridyltransferase (GALT) enzyme activity.To investigate the molecular defects of the GALT gene, PCR-direct sequencing was performed with genomic DNA from 18 Korean patients with reduced GALT activity.Of the 18 ...
Dae-Hyun, Ko +9 more
openaire +2 more sources
Three different types of galactosemia have been described, and the most common form occurs due to a deficiency in the galactose-1-phosphate uridyltransferase (GALT) enzyme activity.To investigate the molecular defects of the GALT gene, PCR-direct sequencing was performed with genomic DNA from 18 Korean patients with reduced GALT activity.Of the 18 ...
Dae-Hyun, Ko +9 more
openaire +2 more sources
Medical Hypotheses, 2005
Classic galactosemia is an autosomal recessive disorder that is caused by activity deficiency of the UDP-galactose uridyl transferase (GALT). The clinical spectrum of classic galactosemia differs according to the type and number of mutations in the GALT gene. Short-term clinical symptoms such as jaundice, hepatomegaly, splenomegaly and E.
Phiyani Justice, Lebea +1 more
openaire +2 more sources
Classic galactosemia is an autosomal recessive disorder that is caused by activity deficiency of the UDP-galactose uridyl transferase (GALT). The clinical spectrum of classic galactosemia differs according to the type and number of mutations in the GALT gene. Short-term clinical symptoms such as jaundice, hepatomegaly, splenomegaly and E.
Phiyani Justice, Lebea +1 more
openaire +2 more sources
Journal of Interferon & Cytokine Research, 1999
Type I interferons (IFN-alpha/beta), products of the innate immune system, can modulate immune function whereas proinflammatory IFN-gamma (type II IFN), a product of the acquired immune system upregulates inflammation and enhances cell mediated immunity.
openaire +2 more sources
Type I interferons (IFN-alpha/beta), products of the innate immune system, can modulate immune function whereas proinflammatory IFN-gamma (type II IFN), a product of the acquired immune system upregulates inflammation and enhances cell mediated immunity.
openaire +2 more sources