Results 1 to 10 of about 368 (102)

The natural history of classic galactosemia: lessons from the GalNet registry [PDF]

Orphanet Journal of Rare Diseases, 2019
Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT).
M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry   +42 more
doaj   +7 more sources

Galactokinase deficiency: lessons from the GalNet registry [PDF]

Genetics in Medicine, 2021
PURPOSE: Galactokinase (GALK1) deficiency is a rare hereditary galactose metabolism disorder. Beyond cataract, the phenotypic spectrum is questionable.
M Estela Rubio-Gozalbo, Dorothea Möslinger, Can Ficicioglu   +2 more
exaly   +4 more sources

The Metabolic Chemical Reporter Ac46AzGal Could Incorporate Intracellular Protein Modification in the Form of UDP-6AzGlc Mediated by OGT and Enzymes in the Leloir Pathway [PDF]

Frontiers in Chemistry, 2021
Galactose is a naturally occurring monosaccharide used to build complex glycans that has not been targeted for labeling as a metabolic reporter. Here, we characterize the cellular modification of proteins by using Ac46AzGal in a dose- and time-dependent ...
Jiajia Wang, Jiajia Wang, Biao Dou, Lu Zheng, Wei Cao, Peiyu Dong, Yingyi Chen, Xueke Zeng, Yinhang Wen, Wenxuan Pan, Jing Ma, Jingying Chen, Xia Li   +12 more
doaj   +2 more sources

Galactose epimerase deficiency: lessons from the GalNet registry [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature.
Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo   +18 more
doaj   +2 more sources

Newborn screening for galactosaemia [PDF]

The Cochrane Library, 2020
Bahareh Yazdizadeh, Majid Davari, Mojtaba Nouhi   +2 more
exaly   +2 more sources

Galactose oxidation using 13C in healthy and galactosemic children [PDF]

Brazilian Journal of Medical and Biological Research, 2015
Galactosemia is an inborn error of galactose metabolism that occurs mainly as the outcome of galactose-1-phosphate uridyltransferase (GALT) deficiency. The ability to assess galactose oxidation following administration of a galactose-labeled isotope (1 ...
D.R. Resende-Campanholi, G. Porta, E. Ferrioli, K. Pfrimer, L.A. Del Ciampo, J.S. Camelo Junior   +5 more
doaj   +3 more sources

Experiences with galactosemia in Croatia [PDF]

Liječnički vjesnik, 2023
The aim of our study was to describe the characteristics of patients with classical galactosemia in Croatia, with the description of patients with galactokinase deficiency and a patient who was a double heterozygote for mutations of the galactose-1 ...
Ana Šmaguc, Danijela Petković Ramadža, Vladimir Sarnavka†, Vjekoslav Krželj, Bernarda Lozić, Silvija Pušeljić, Valentina Rahelić, Nikola Mesarić, Marina Grubić, Ana Bogdanić, Anita Špehar Uroić, Tamara Žigman, Ruža Grizelj, Jurica Vuković, Duško Mardešić, Ildiko Szatmari, Isabel Rivera, Ksenija Fumić, Ivo Barić   +18 more
doaj   +1 more source

Drosophila melanogaster Models of Galactosemia [PDF]

Current Topics in Developmental Biology, 2017
Judith L Fridovich-Keil
exaly   +2 more sources

Galactosemia como causa de ictericia neonatal

Revista de la Facultad de Medicina, 2014
La ictericia es un problema muy frecuente en las unidades de recién nacidos. En este documento se presenta el caso de un neonato que cursó con hiperbilirrubinemia, inicialmente con predominio de la bilirrubina indirecta y posteriormente con anemia ...
Mery Yolanda Cifuentes-Cifuentes, Antonio Estrada-Vizcaíno, Rosa Romero C.   +2 more
doaj   +1 more source

Avaliação econômica em saúde: triagem neonatal da galactosemia Newborn screening for galactosemia: a health economics evaluation

Cadernos de Saúde Pública, 2011
Este trabalho avalia a eficiência da adição do exame da galactosemia junto ao Teste do Pezinho. Baseado na incidência média estimada de galactosemia, de 1:19.984 recém-nascidos, no Estado de São Paulo, Brasil, este estudo desenvolve um modelo de análise ...
José Simon Camelo Junior, Maria Inez Machado Fernandes, Salim Moysés Jorge, Lea Maria Zanini Maciel, Jair Lício Ferreira Santos, Alceu Salles Camargo Jr., Cláudia Souza Passador, Sílvia Helena Henriques Camelo   +7 more
doaj   +1 more source