Results 1 to 10 of about 409 (95)

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.
Arantes, Rodrigo R, Banford, Samantha, Berry, Gerard T, Burlina, Alberto B, Cabrera, Analía, Chiesa, Ana, Couce, M Luz, Demirbas, Didem, Derks, Britt, Dionisi-Vici, Carlo, Gautschi, Matthias, Grünewald, Stephanie, Morava, Eva, Möslinger, Dorothea, Rubio-Gozalbo, M Estela, Scholl-Bürgi, Sabine, Skouma, Anastasia, Stepien, Karolina M, Timson, David J   +18 more
core   +5 more sources

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).
Berry, G T, Bosch, A M, Burnyte, B, Cassiman, D, Coelho, A I, Couce, M L, Dawson, C, de Vries, M, Demirbas, D, Derks, T, Eyskens, F, Forga, M T, Gautschi, Matthias, Grunewald, S, Haskovic, M, Hochuli, M, Hubert, A, Huidekoper, H H, Häberle, J, Janeiro, P, Knerr, I, Kotzka, J, Labrune, P, Landau, Y E, Langendonk, J G, Murphy, E, Möslinger, D, Müller-Wieland, D, Ramadza, D, Rivera, I A, Rubio-Gozalbo, M E, Scholl-Buergi, S, Stepien, K M, Thijs, A, Tran, C, Treacy, E P, Vara, R, Visser, G, Vos, R, Waisbren, S E, Welsink-Karssies, M M, Wortmann, S B, Õunap, K   +42 more
core   +12 more sources

Galactosemia: Towards Pharmacological Chaperones [PDF]

J Pers Med, 2021
Galactosemia is a rare inherited metabolic disease resulting from mutations in the four genes which encode enzymes involved in the metabolism of galactose. The current therapy, the removal of galactose from the diet, is inadequate.
Banford, Samantha, McCorvie, Thomas J., Timson, David J.   +2 more
core   +3 more sources

Galactokinase deficiency:lessons from the GalNet registry [PDF]

Genet Med, 2020
PURPOSE Galactokinase (GALK1) deficiency is a rare hereditary galactose metabolism disorder. Beyond cataract, the phenotypic spectrum is questionable.
Berry, Gerard T., Bosch, Annet M., Cassiman, David, Couce, M. Luz, Das, Anibh Martin, De Los Santos De Pelegrin, Mariela M., Demirbas, Didem, Derks, Britt, Empain, Aurélie, Ficicioglu, Can, Gautschi, Matthias, Juliá Palacios, Natalia, Knerr, Ina, Labrune, Philippe, Meyer, Uta, Möslinger, Dorothea, Rivera, Isabel A., Rubio-Gozalbo, M. Estela, Scholl-Bürgi, Sabine, Skouma, Anastasia, Timson, David J., Treacy, Eileen P., Verloo, Patrick, Wortmann, Saskia B.   +23 more
core   +3 more sources

Optimization of established and assessment of novel newborn screening strategies in the Netherlands [PDF]

, 2021
Newborn screening (NBS) is an important method for prevention of long-term health consequences or premature death in newborns with inherited disorders.
Stroek, K.
core   +2 more sources

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening [PDF]

, 2023
The Wilson and Jungner (W&J) and Andermann criteria are meant to help select diseases eligible for population-based screening. With the introduction of next-generation sequencing (NGS) methods for newborn screening (NBS), more inherited metabolic ...
Bosch, Annet M., Brands, Marion M.G., de Coo, René I.F.M., de Sain-van der Velden, Monique G., Derks, Terry G.J., Fuchs, Sabine A., Heiner-Fokkema, M. Rebecca, Huidekoper, Hidde H., Kiewiet, M. B.Gea, Kluijtmans, Leo A.J., Koop, Klaas, Lubout, Charlotte M.A., Mulder, Margaretha F., Panis, Bianca, Rubio-Gozalbo, M. Estela, Schaefers, Jaqueline, Schreuder, Andrea B., van den Hout, Johanna M.P., van Spronsen, Francjan J., Veldman, Abigail, Visser, Gepke, Westra, Dineke, Wevers, Ron A., Wijburg, Frits A.   +23 more
core   +5 more sources

Plasma coenzyme Q10 status is impaired in selected genetic conditions. [PDF]

, 2019
Identifying diseases displaying chronic low plasma Coenzyme Q10 (CoQ) values may be important to prevent possible cardiovascular dysfunction. The aim of this study was to retrospectively evaluate plasma CoQ concentrations in a large cohort of pediatric ...
Artuch, R, Campistol, J, Delgadillo, V, Fernandez, G, García-Cazorla, A, González, MJ, Hargreaves, IP, Maynou, J, Meavilla, S, Montero, R, Montoya, J, Navas, P, Neergheen, V, O'Callaghan, MDM, Pineda, M, Ruiz-Pesini, E, Salgado, MC, Yubero, D   +17 more
core   +4 more sources

Aportaciones de Louis I. Woolf al Tratamiento y Diagnóstico Precoz de la Fenilcetonuria y otros Errores Congénitos del Metabolismo. Los comienzos de la Tría Neonatal en España, con referencia al Programa de Galicia. CENTENARIO DE LOUIS ISAAC WOOLF [PDF]

, 2018
3ª ediciónAportaciones de Louis I. Woolf al Tratamiento y Diagnóstico Precoz de la Fenilcetonuria y otros Errores Congénitos del Metabolismo.
Alonso Fernández, José Ramón, Colón Mejeras, Cristóbal   +1 more
core   +1 more source

Carbohydrate Kinases: A Conserved Mechanism Across Differing Folds [PDF]

, 2019
This is the final version. Available from MDPI via the DOI in this recordCarbohydrate kinases activate a wide variety of monosaccharides by adding a phosphate group, usually from ATP.
Harmer, NJ, Roy, S, Vivoli Vega, M
core   +1 more source

Galactosemias:Lessons from the GalNet registry, state of the art fertility insights, and exploring new treatments [PDF]

Galactosemias is a group of inherited disorders characterised by an aberrant cellular galactose metabolism. Depending on the affected step in the galactose metabolism pathway, patients show a broad phenotypic spectrum and experience a high disease burden.
Derks, Britt
core   +2 more sources