Zobrazeno 1 - 10 of 49 pro vyhledávání: '"M. E. Rubio Gozalbo"'
1
Akademický článek
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization
Autor: Kevin Stroek, Anita Boelen, Marelle J. Bouva, Monique De Sain‐van der Velden, Peter C. J. I. Schielen, Rose Maase, Henk Engel, Bernadette Jakobs, Leo A. J. Kluijtmans, Margot F. Mulder, M. E. Rubio‐Gozalbo, Francjan J. vanSpronsen, Gepke Visser, Maaike C. deVries, Monique Williams, Annemieke C. Heijboer, Evelien A. Kemper, Annet M. Bosch
Publikováno v: JIMD Reports, Vol 54, Iss 1, Pp 68-78 (2020)
Abstract Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD newborn screening (NBS) in the Netherlands (screening >72 hou
Externí odkaz: https://doaj.org/article/7f7bd064509b48dcadfaf828dc4a8fe7
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2
Akademický článek
The natural history of classic galactosemia: lessons from the GalNet registry
Autor: 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
Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Abstract Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to t
Externí odkaz: https://doaj.org/article/20f1c5ba16b242a794c606a704d94859
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3
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome
Autor: A.T. van der Ploeg, Annet M. Bosch, Femke Molema, Judith J.M. Jans, Mirian C. H. Janssen, Martijn C. G. J. Brouwers, Dimitris Rizopoulos, Sabine A. Fuchs, Hanneke A. Haijes, Nanda M. Verhoeven-Duif, M.C. de Vries, Monique Williams, F. J. van Spronsen, Janneke G. Langendonk, P.M. van Hasselt, M. E. Rubio-Gozalbo, Margot F. Mulder, Margreet A E M Wagenmakers
Publikováno v: Clinical Nutrition, 40(5), 3622-3630. Churchill Livingstone
Clinical Nutrition, 40, 3622-3630
Clinical Nutrition, 40, 5, pp. 3622-3630
Clinical nutrition (Edinburgh, Scotland), 40(5), 3622-3630. Churchill Livingstone
Molema, F, Haijes, H A, Janssen, M C, Bosch, A M, van Spronsen, F J, Mulder, M F, Verhoeven-Duif, N M, Jans, J J M, van der Ploeg, A T, Wagenmakers, M A, Rubio-Gozalbo, M E, Brouwers, M C G J, de Vries, M C, Fuchs, S, Langendonk, J G, Rizopoulos, D, van Hasselt, P M & Williams, M 2021, ' High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcome ', Clinical Nutrition, vol. 40, no. 5, pp. 3622-3630 . https://doi.org/10.1016/j.clnu.2020.12.027
Background and objective: Methylmalonic acidemia (MMA) and propionic acidemia (PA) are inborn errors of metabolism. While survival of MMA and PA patients has improved in recent decades, long-term outcome is still unsatisfactory. A protein restricted
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c7707b9fbf36a7f8b9b343709220c73
https://doi.org/10.1016/j.clnu.2020.12.027
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4
[13C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis
Autor: Britt Derks, Didem Demirbas, David J. Timson, M. E. Rubio-Gozalbo, Gerard T. Berry, Can Ficicioglu, G Shashidhar Pai
Publikováno v: JIMD Reports, Vol 59, Iss 1, Pp 104-109 (2021)
JIMD reports, 59(1), 104-109. Springer
Galactokinase deficiency is an inborn error of carbohydrate metabolism due to a block in the formation of galactose‐1‐phosphate from galactose. Although the association of galactokinase deficiency with formation of cataracts is well established,
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e7ac9540d12485a58d97a7964b25e3e
https://doaj.org/article/b8646ce29b08414b95415f29487e97a8
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5
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimization
Autor: M. E. Rubio-Gozalbo, Annemieke C. Heijboer, Gepke Visser, Bernadette S. Jakobs, Kevin Stroek, Margot F. Mulder, Monique Williams, Francjan J. van Spronsen, Marelle J. Bouva, Evelien A. Kemper, Rose Maase, Monique G.M. de Sain-van der Velden, Anita Boelen, Maaike de Vries, Peter C. J. I. Schielen, Henk Engel, Annet M. Bosch, Leo A. J. Kluijtmans
Publikováno v: JIMD Reports, 54(1), 68-78. Springer Berlin
Journal of Inherited Metabolic Disease, 54, 68-78. Springer Netherlands
JIMD Reports, Vol 54, Iss 1, Pp 68-78 (2020)
JIMD reports, 54(1), 68-78. Springer
Jimd Reports, 54, 68-78
JIMD reports, 54(1), 68-78. Springer Berlin
Jimd Reports, 54, 1, pp. 68-78
JIMD Reports
Stroek, K, Boelen, A, Bouva, M J, De Sain-van der Velden, M, Schielen, P C J I, Maase, R, Engel, H, Jakobs, B, Kluijtmans, L A J, Mulder, M F, Rubio-Gozalbo, M E, van Spronsen, F J, Visser, G, de Vries, M C, Williams, M, Heijboer, A C, Kemper, E A & Bosch, A M 2020, ' Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature : Strategies for optimization ', JIMD Reports, vol. 54, no. 1, pp. 68-78 . https://doi.org/10.1002/jmd2.12124
Contains fulltext : 225118.pdf (Publisher’s version ) (Open Access) Maple syrup urine disease (MSUD) leads to severe neurological deterioration unless diagnosed early and treated immediately. We have evaluated the effectiveness of 11 years of MSUD
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1eb42a02fa6e57493411ff01609983c
https://doi.org/10.1002/jmd2.12124
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6
Current and Future Treatments for Classic Galactosemia
Autor: M. E. Rubio-Gozalbo, Ana I. Coelho, Britt Delnoy
Publikováno v: Journal of Personalized Medicine
Journal of Personalized Medicine, Vol 11, Iss 75, p 75 (2021)
Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal comp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::021092d2556f670a0866200eed2fc26e
https://pubmed.ncbi.nlm.nih.gov/33525536
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7
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia
Autor: Robin H. Lachmann, Martijn C. G. J. Brouwers, Hendriekje Eggink, Anouk Kuiper, Tom J. de Koning, Monique Williams, M. E. Rubio-Gozalbo, Stephanie Grunewald, Elaine Murphy, Maraike Coenen, Mirian C. H. Janssen, Terry G J Derks, Annet M. Bosch, Marina A. J. Tijssen, Rodi Zutt
Publikováno v: Journal of Inherited Metabolic Disease, 42(3), 451-458. Wiley
Journal of Inherited Metabolic Disease, 42(3), 451-458. SPRINGER
Journal of Inherited Metabolic Disease, 42, 3, pp. 451-458
Journal of Inherited Metabolic Disease, 42(3), 451-458. Springer Netherlands
Journal of inherited metabolic disease, 42(3), 451-458. Springer Netherlands
Journal of Inherited Metabolic Disease, 42, 451-458
Although movement disorders (MDs) are known complications, the exact frequency and severity remains uncertain in patients with classical galactosemia, especially in children. We determined the frequency, classification and severity of MDs in a cohort
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1782aa8caa553ed87a3b2f24af1d907
https://cris.maastrichtuniversity.nl/en/publications/593bd7e5-c141-4716-a396-883b074c101b
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8
The natural history of classic galactosemia: lessons from the GalNet registry
Autor: A Thijs, Patrícia Janeiro, Ina Knerr, Ana I. Coelho, Aurélie Hubert, Dirk Müller-Wieland, Philippe Labrune, D Ramadza, M T Forga, Isabel Rivera, Rein Vos, Saskia B. Wortmann, María L. Couce, Gerard T. Berry, Christel Tran, Elaine Murphy, Didem Demirbas, Roshni Vara, Charlotte Dawson, Janneke G. Langendonk, Katrin Õunap, Mendy M. Welsink-Karssies, M Haskovic, Eileen P. Treacy, Johannes Häberle, Matthias Gautschi, Annet M. Bosch, Stephanie Grunewald, Gepke Visser, Birute Burnyte, S Scholl-Buergi, David Cassiman, M. E. Rubio-Gozalbo, Susan E. Waisbren, Yuval Landau, François Eyskens, Karolina M. Stepien, Jorg Kotzka, H H Huidekoper, Michel Hochuli, Dorothea Möslinger, Terry G J Derks, M.S. de Vries
Publikováno v: Orphanet journal of rare diseases, 14(1):86. BMC
Rubio-Gozalbo, M E; Haskovic, M; Bosch, A M; Burnyte, B; Coelho, A I; Cassiman, D; Couce, M L; Dawson, C; Demirbas, D; Derks, T; Eyskens, F; Forga, M T; Grunewald, S; Häberle, J; Hochuli, M; Hubert, A; Huidekoper, H H; Janeiro, P; Kotzka, J; Knerr, I; ... (2019). The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet journal of rare diseases, 14(1), p. 86. BioMed Central 10.1186/s13023-019-1047-z
Minerva. Repositorio Institucional de la Universidad de Santiago de Compostela
instname
Orphanet journal of rare diseases
Orphanet journal of rare diseases, London : BioMed Central Ltd., 2019, vol. 14, art. no 86, p. [1-11]
Orphanet journal of rare diseases, 14(1):86. BioMed Central
Orphanet journal of rare diseases, vol. 14, no. 1, pp. 86
Orphanet Journal of Rare Diseases, 14:86. BioMed Central Ltd.
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Orphanet Journal of Rare Diseases, 14:86. BioMed Central Ltd
Rubio-Gozalbo, M E, Haskovic, M, Bosch, A M, Burnyte, B, Coelho, A I, Cassiman, D, Couce, M L, Dawson, C, Demirbas, D, Derks, T, Eyskens, F, Forga, M T, Grunewald, S, Häberle, J, Hochuli, M, Hubert, A, Huidekoper, H H, Janeiro, P, Kotzka, J, Knerr, I, Labrune, P, Landau, Y E, Langendonk, J G, Möslinger, D, Müller-Wieland, D, Murphy, E, Õunap, K, Ramadza, D, Rivera, I A, Scholl-Buergi, S, Stepien, K M, Thijs, A, Tran, C, Vara, R, Visser, G, Vos, R, de Vries, M, Waisbren, S E, Welsink-Karssies, M M, Wortmann, S B, Gautschi, M, Treacy, E P & Berry, G T 2019, ' The natural history of classic galactosemia: Lessons from the GalNet registry ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 86 . https://doi.org/10.1186/s13023-019-1047-z
Orphanet Journal of Rare Diseases, 14(1). BioMed Central
Orphanet Journal of Rare Diseases, 14(1):86. BioMed Central
Background: Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9621af2463fe452b8a626ef40cc6ee1a
https://research.rug.nl/en/publications/cec5aa55-6214-4b55-8fc1-1667be0be520
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9
Hip Morphology in Mucolipidosis Type II
Autor: Sandra Pohl, Esmeralda Oussoren, M. E. Rubio-Gozalbo, Sandra Breyer, Nicole Muschol, Ralf Stuecker, Luise Ammer, René Santer, Eik Vettorazzi
Publikováno v: Journal of Clinical Medicine, 9(3). Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine
Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 728
Journal of Clinical Medicine, 9(3):728. Multidisciplinary Digital Publishing Institute (MDPI)
Journal of Clinical Medicine, Vol 9, Iss 3, p 728 (2020)
Mucolipidosis type II (MLII) is a rare lysosomal storage disorder caused by defective trafficking of lysosomal enzymes. Severe skeletal manifestations are a hallmark of the disease including hip dysplasia. This study aims to describe hip morphology a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4738ef69daae7840422e2649ab57a3b4
https://doi.org/10.3390/jcm9030728
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10
The galactosemia network (GalNet)
Autor: Eileen P. Treacy, Gerard T. Berry, Annet M. Bosch, M. E. Rubio-Gozalbo, Alessandro P. Burlina
Publikováno v: Journal of inherited metabolic disease, 40(2), 169-170. Springer Netherlands
Journal of inherited metabolic disease, Dordrecht, Springer, 2017, Vol. 40, no 2, p. 169-170
Journal of Inherited Metabolic Disease, 40(2), 169-170. Wiley
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26121bc58bc343d6fb9d1c850c2ebee1
https://pure.amc.nl/en/publications/the-galactosemia-network-galnet(a796e485-7c38-4303-bf08-10bacc6b823d).html
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