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Results for

""UTP-Hexose-1-Phosphate Uridylyltransferase""[mesh_terms]

11 Results

Searching titles within these results

Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.

L A Tyfield

European journal of pediatrics 2001;159 Suppl 3():S204-7

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Classic Galactosemia: Clinical and Computational Characterization of a Novel Missense Variant (p.A303D) and a Literature Review.

Filomena Cariola, Paola Sanese, Valentina Grossi, Donatella Capodiferro, Candida Fasano, Antonino Pantaleo, Antonia Lucia Buonadonna, Giovanna Forte, Katia De Marco, Cristiano Simone, Vittoria Disciglio, Nicola Laforgia, Simonetta Simonetti, Anna Filomena Guglielmi, Andrea Manghisi, Martina Lepore Signorile

International journal of molecular sciences 2024;24(24):17388

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Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel Gene Mutation Identified.

Liutauras Labanauskas, Rūta Kučinskienė, Mindaugas Dženkaitis, Rasa Traberg, Rūta Rokaitė

Medicina (Kaunas, Lithuania) 2021;56(11):559

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Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.

Mariangela Succoio, Margherita Ruoppolo, Giancarlo Parenti, Alessandro Rossi, Rosa Sacchettini

Biomolecules 2022;12(7):968

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Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.

L Politano, A Burlina, A Marabotti, E Viggiano

Clinical genetics 2019;93(2):206-215

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Clinical and genetic features of Classic Galactosemia in the south of Brazil.

Ida Vanessa Doederlein Schwartz, Sandra Maria Vieira, Mariana Marcano-Ruiz, Fabiano de Oliveira Poswar, Fernanda Bender Pasetto, Fernanda Medeiros Sebastião, Kristiane Michelin Tirelli, Lilia Farret, Cláudia Fernandes Lorea, Alexandra Gomes, Lucas Ferreira Teixeira, Raquel Borges Pinto, Fernanda Sperb-Ludwig, Lavínia Schuler-Faccini, Carolina Fischinger Moura de Souza, Isabel Rivera, Leonardo Simão Medeiros

Molecular genetics and metabolism 2025;145(4):109173

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L-Ascorbate biosynthesis in higher plants: the role of VTC2.

Steven G Clarke, Carole L Linster

Trends in plant science 2009;13(11):567-73

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The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.

David J Timson, Thomas J McCorvie

IUBMB life 2012;63(9):694-700

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Galactosemia: when is it a newborn screening emergency?

Gerard T Berry

Molecular genetics and metabolism 2012;106(1):7-11

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Hereditary galactosemia.

Gerard T Berry, M Estela Rubio-Gozalbo, Ana I Coelho, Didem Demirbas

Metabolism: clinical and experimental 2019;83():188-196

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The natural history of classic galactosemia: lessons from the GalNet registry.

G T Berry, E P Treacy, M Gautschi, S B Wortmann, M M Welsink-Karssies, S E Waisbren, M de Vries, F Eyskens, T Derks, D Demirbas, C Dawson, M L Couce, D Cassiman, A I Coelho, B Burnyte, A M Bosch, M Haskovic, M E Rubio-Gozalbo, M T Forga, D Möslinger, R Vos, G Visser, R Vara, C Tran, A Thijs, K M Stepien, S Scholl-Buergi, I A Rivera, D Ramadza, K Õunap, E Murphy, D Müller-Wieland, J G Langendonk, Y E Landau, P Labrune, I Knerr, J Kotzka, P Janeiro, H H Huidekoper, A Hubert, M Hochuli, J Häberle, S Grunewald

Orphanet journal of rare diseases 2019;14(1):86

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Results: 1 – 11 / 11

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Results for ""UTP-Hexose-1-Phosphate Uridylyltransferase""[mesh_terms]

Galactosaemia and allelic variation at the galactose-1-phosphate uridyltransferase gene: a complex relationship between genotype and phenotype.

Classic Galactosemia: Clinical and Computational Characterization of a Novel Missense Variant (p.A303D) and a Literature Review.

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel Gene Mutation Identified.

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment.

Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.

Clinical and genetic features of Classic Galactosemia in the south of Brazil.

L-Ascorbate biosynthesis in higher plants: the role of VTC2.

The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.

Galactosemia: when is it a newborn screening emergency?

Hereditary galactosemia.

The natural history of classic galactosemia: lessons from the GalNet registry.

Results for

""UTP-Hexose-1-Phosphate Uridylyltransferase""[mesh_terms]