Zobrazeno 1 - 10
of 156
pro vyhledávání: '"M Estela Rubio-Gozalbo"'
Autor:
Bianca Panis, Lise E. F. Janssen, Dirk J. Lefeber, Nynke Simons, M. Estela Rubio‐Gozalbo, Martijn C. G. J. Brouwers
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 353-359 (2023)
Abstract Although hereditary fructose intolerance (HFI) is an inborn error of fructose metabolism that classically presents at infancy, the diagnosis is often missed or delayed. In this study, we aimed to develop tools to facilitate the diagnosis of
Externí odkaz:
https://doaj.org/article/714da9cadf8042f39f9898fcf10784e7
Autor:
Merel E. Hermans, Hedy A. van Oers, Gert J. Geurtsen, Lotte Haverman, Carla E. M. Hollak, M. Estela Rubio-Gozalbo, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-16 (2023)
Abstract Background Classical galactosemia (CG), an inborn error of galactose metabolism, results in long-term complications including cognitive impairment and movement disorders, despite early diagnosis and dietary treatment. Two decades ago, lower
Externí odkaz:
https://doaj.org/article/1b8a6b840b9d4608bd5f0495820e0ce9
Autor:
Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsycholo
Externí odkaz:
https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8
Autor:
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
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficiency from different cou
Externí odkaz:
https://doaj.org/article/7b30d0500cf94f298bf161b0d11d2fb6
Autor:
Abigail Veldman, M. B. Gea Kiewiet, Dineke Westra, Annet M. Bosch, Marion M. G. Brands, René I. F. M. de Coo, Terry G. J. Derks, Sabine A. Fuchs, Johanna. M. P. van den Hout, Hidde H. Huidekoper, Leo A. J. Kluijtmans, Klaas Koop, Charlotte M. A. Lubout, Margaretha F. Mulder, Bianca Panis, M. Estela Rubio-Gozalbo, Monique G. de Sain-van der Velden, Jaqueline Schaefers, Andrea B. Schreuder, Gepke Visser, Ron A. Wevers, Frits A. Wijburg, M. Rebecca Heiner-Fokkema, Francjan J. van Spronsen
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 4, p 56 (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 dis
Externí odkaz:
https://doaj.org/article/3d50f4a1bda74e6c8dfdc49c9d39ba02
Autor:
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-4 (2020)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/ed4f87ab5e09425ab15c3a2e8a468511
Autor:
Mendy M. Welsink-Karssies, Kim J. Oostrom, Merel E. Hermans, Carla E. M. Hollak, Mirian C. H. Janssen, Janneke G. Langendonk, Esmee Oussoren, M. Estela Rubio Gozalbo, Maaike de Vries, Gert J. Geurtsen, Annet M. Bosch
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-13 (2020)
Abstract Background Despite early diagnosis and treatment, Classical Galactosemia (CG) patients frequently develop long-term complications, such as cognitive impairment. Available literature primarily reports on general intellectual abilities and sho
Externí odkaz:
https://doaj.org/article/59dbbee28c694cbeb9573c105db3cdb8
Autor:
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E Naomi Vos, Didem Demirbas, Kent Lai, Eileen P Treacy, Harvey L Levy, Louise E Wilkins-Haug, M Estela Rubio-Gozalbo, Gerard T Berry
Publikováno v:
Human Reproduction Update, 29(2), 246-258. Oxford University Press
BACKGROUND Hypergonadotropic hypogonadism is a burdensome complication of classic galactosemia (CG), an inborn error of galactose metabolism that invariably affects female patients. Since its recognition in 1979, data have become available regarding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b14071b42aecdf82f13075d179eabafb
https://doi.org/10.1093/humupd/dmac041
https://doi.org/10.1093/humupd/dmac041
Autor:
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, Jorn Trommelen, Jean Nyakayiru, Luc J. C. van Loon, Sabrina Mackinnon, Wyatt W. Yue, Roy W. A. Peake, Li Zha, Didem Demirbas, Wanshu Qi, Xiaoping Huang, Gerard T. Berry, Jelle Achten, Jörgen Bierau, M. Estela Rubio-Gozalbo, Ana I. Coelho
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications. Many mutations in the GALT gene responsible
Externí odkaz:
https://doaj.org/article/14f787f239734944a06747ee7ac1581c
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-13 (2017)
Abstract Patients with classic galactosemia, a genetic metabolic disorder, encounter cognitive impairments, including motor (speech), language, and memory deficits. We used functional magnetic resonance imaging to evaluate spontaneous functional conn
Externí odkaz:
https://doaj.org/article/950b498628364bff9197f284bb7d7f15