Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Amaya Bélanger Quintana"'
Autor:
Júlio César Rocha, Heather Bausell, Amaya Bélanger-Quintana, Laurie Bernstein, Hülya Gökmen-Özel, Alexandra Jung, Anita MacDonald, Fran Rohr, Esther van Dam, Margret Heddrich-Ellerbrok
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 28, Iss , Pp 100771- (2021)
Background: The metabolic dietitian/nutritionist (hereafter ‘dietitian’) plays an essential role in the nutritional management of patients with phenylketonuria (PKU), including those on pegvaliase. Currently, more educational support and clinical
Externí odkaz:
https://doaj.org/article/7da1310c6578481e9e90c62904657daa
Akademický článek
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Autor:
Álvaro Martín-Rivada, Ana Cambra Conejero, Elena Martín-Hernández, Ana Moráis López, Amaya Bélanger-Quintana, Elvira Cañedo Villarroya, Pilar Quijada-Fraile, Marcelo Bellusci, Silvia Chumillas Calzada, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez-Pardo Casanova, Pedro Ruíz-Sala, Magdalena Ugarte, Belén Pérez González, Consuelo Pedrón-Giner
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 35:1223-1231
Objectives We present the results of our experience in the diagnosis and follow up of the positive cases for propionic, methylmalonic acidemias and cobalamin deficiencies (PA/MMA/MMAHC) since the Expanded Newborn Screening was implemented in Madrid R
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c813eccf4085cc1a50dcfde774044062
https://doi.org/10.1515/jpem-2022-0340
https://doi.org/10.1515/jpem-2022-0340
Autor:
Margreet van Rijn, Kirsten Ahring, Amaya Bélanger-Quintana, Kathi Dokoupil, Hulya Gokmen Ozel, Anna Maria Lammardo, Martine Robert, Júlio C. Rocha, Anita MacDonald
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 2, Iss C, Pp 85-88 (2015)
Lifelong low-phenylalanine (Phe) dietary management is the foundation of care in phenylketonuria (PKU). However, strict monitoring of food intake places a burden on patients and their caregivers, and adherence to the required diet frequently decrease
Externí odkaz:
https://doaj.org/article/722aa4ce7b7443189746219d1c9f4176
Autor:
Amaya Bélanger-Quintana, Francisco Arrieta Blanco, Delia Barrio-Carreras, Ana Bergua Martínez, Elvira Cañedo Villarroya, María Teresa García-Silva, Rosa Lama More, Elena Martín-Hernández, Ana Moráis López, Montserrat Morales-Conejo, Consuelo Pedrón-Giner, Pilar Quijada-Fraile, Sinziana Stanescu, Mercedes Martínez-Pardo Casanova
Publikováno v:
Nutrients. 14(13)
Hyperammonaemia is a metabolic derangement that may cause severe neurological damage and even death due to cerebral oedema, further complicating the prognosis of its triggering disease. In small children it is a rare condition usually associated to i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac91be255fb6d6ff5840f3136bcc2322
https://pubmed.ncbi.nlm.nih.gov/35807935
https://pubmed.ncbi.nlm.nih.gov/35807935
Autor:
Barbara K. Burton, Álvaro Hermida, Amaya Bélanger-Quintana, Heather Bell, Kendra J. Bjoraker, Shawn E. Christ, Mitzie L. Grant, Cary O. Harding, Stephan C.J. Huijbregts, Nicola Longo, Markey C. McNutt, Mina D. Nguyen-Driver, André L. Santos Pessoa, Júlio César Rocha, Stephanie Sacharow, Amarilis Sanchez-Valle, H. Serap Sivri, Jerry Vockley, Mark Walterfang, Sarah Whittle, Ania C. Muntau
Publikováno v:
Molecular genetics and metabolism. 137(1-2)
Early treated patients with phenylketonuria (PKU) often become lost to follow-up from adolescence onwards due to the historical focus of PKU care on the pediatric population and lack of programs facilitating the transition to adulthood. As a result,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::228a753416bc927fbe9c2279a6edc2ce
https://pubmed.ncbi.nlm.nih.gov/36027720
https://pubmed.ncbi.nlm.nih.gov/36027720
Autor:
Francisco Arrieta Blanco, Amaya Bélanger Quintana, Sinziana Stanescu, Mercedes Martínez-Pardo, Nuria Bengoa Rojano
Publikováno v:
Endocrinología, Diabetes y Nutrición
Endocrinologia, Diabetes Y Nutricion
Endocrinologia, Diabetes Y Nutricion
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e9b8ecf8ce0568f2ebd76ddc6e7232
https://doi.org/10.1016/j.endinu.2020.07.001
https://doi.org/10.1016/j.endinu.2020.07.001
Autor:
Francisco Arrieta Blanco, Amaya Bélanger Quintana, Nuria Bengoa Rojano, Sinziana Stanescu, Mercedes Martinez Pardo
Publikováno v:
Endocrinologia, diabetes y nutricion. 68(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff750e18e6e2c5cea884c4b53a38bcda
https://pubmed.ncbi.nlm.nih.gov/34863417
https://pubmed.ncbi.nlm.nih.gov/34863417
Autor:
Maria del Mar Meijon-Ortigueira, Isabel Solares, Cecilia Muñoz-Delgado, Sinziana Stanescu, Marta Morado, Cristina Pascual-Izquierdo, Lucía Villalon Blanco, Amaya Belanger Quintana, Covadonga Pérez Menéndez-Conde, Montserrat Morales-Conejo, Jesús Villarrubia-Espinosa
Publikováno v:
Biomedicines, Vol 12, Iss 3, p 579 (2024)
Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impa
Externí odkaz:
https://doaj.org/article/c0b14991a0d948f48d6d5020a2c89ed5
Autor:
Sinziana Stanescu, Patricia Correcher Medina, Francisco J. del Castillo, Olga Alonso Luengo, Luis Maria Arto Millan, Amaya Belanger Quintana, Maria Camprodon Gomez, Lydia Diez Langhetée, Oscar Garcia Campos, Ana Matas Garcia, Jimena Perez-Moreno, Barbara Rubio Gribble, Nuria Visa-Reñé, Pilar Giraldo-Castellano, Mar O’Callaghan Gordo
Publikováno v:
Biomedicines, Vol 11, Iss 10, p 2861 (2023)
This was a retrospective, multicenter study that aimed to report the characteristics of type 3 Gaucher disease (GD3) patients in Spain, including the genotype, phenotype, therapeutic options, and treatment responses. A total of 19 patients with GD3 f
Externí odkaz:
https://doaj.org/article/5e5a3a4353424e60994aaa7c5732e1bf