Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Amaya Belanger"'
Autor:
Beatriz Ugalde-Abiega, Sinziana Stanescu, Amaya Belanger, Mercedes Martinez-Pardo, Francisco Arrieta
Publikováno v:
Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-5 (2023)
Abstract Background Phenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It was the first disease included in neonatal screening. Neonatal screening has allow
Externí odkaz:
https://doaj.org/article/7f121f29c9fa4911ba5856795e407c10
Autor:
Raquel Barbero-Herranz, María Garriga-García, Ana Moreno-Blanco, Esther Palacios, Pedro Ruiz-Sala, Saioa Vicente-Santamaría, Sinziana Stanescu, Amaya Belanger-Quintana, Guillem Pintos-Morell, Beatriz Arconada, Rosa del Campo, José Avendaño-Ortiz
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 16, p 8856 (2024)
Sanfilippo syndrome, or mucopolysaccharidosis type III (MPS III), is a rare lysosomal disease caused by congenital enzymatic deficiencies in heparan sulfate (HS) degradation, leading to organ dysfunction. The most severe hallmark of MPS III comprises
Externí odkaz:
https://doaj.org/article/6d026beff485435fadf112cd785b1dcc
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, Irene Bravo-Alonso, Amaya Belanger-Quintana, Belen Pérez, Montserrat Medina-Diaz, Pedro Ruiz-Sala, Nathaly Paola Flores, Raquel Buenache, Francisco Arrieta, Pilar Rodríguez-Pombo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Monocarboxylate transporter 1 (MCT1) deficiency has recently been described as a rare cause of recurrent ketosis, the result of impaired ketone utilization in extrahepatic tissues. To date, only six patients with this condition ha
Externí odkaz:
https://doaj.org/article/bf838d3290344e92b33a55b04e45428f
Autor:
Álvaro Martín‐Rivada, Laura Palomino Pérez, Pedro Ruiz‐Sala, Rosa Navarrete, Ana Cambra Conejero, Pilar Quijada Fraile, Ana Moráis López, Amaya Belanger‐Quintana, Elena Martín‐Hernández, Marcello Bellusci, Elvira Cañedo Villaroya, Silvia Chumillas Calzada, María Teresa García Silva, Ana Bergua Martínez, Sinziana Stanescu, Mercedes Martínez‐Pardo Casanova, Miguel L. F. Ruano, Magdalena Ugarte, Belén Pérez, Consuelo Pedrón‐Giner
Publikováno v:
JIMD Reports, Vol 63, Iss 2, Pp 146-161 (2022)
Abstract We present the results of our experience in the diagnosis of inborn errors of metabolism (IEM) since the Expanded Newborn Screening was implemented in our Region. Dried blood samples were collected 48 h after birth. Amino acids and acylcarni
Externí odkaz:
https://doaj.org/article/1b8b5ea5967a4cc4a9736f613e6e8269
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
Autor:
Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernandez-Felix, Francisco Arrieta, Victor Quintero, Maria Soledad Maldonado, Patricia Alcaide, Mercedes Martínez-Pardo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Abstract Background Propionic acidemia (PA), an inborn error of metabolism, is caused by a deficiency in propionyl-CoA carboxylase. Patients have to follow a diet restricted in the propiogenic amino acids isoleucine (Ile), valine (Val), methionine (M
Externí odkaz:
https://doaj.org/article/c21f6ba11f434c0e8b9358b24f8caf7d
Autor:
Sinziana Stanescu, Amaya Belanger-Quintana, Borja Manuel Fernández-Felix, Pedro Ruiz-Sala, Patricia Alcaide, Francisco Arrieta, Mercedes Martínez-Pardo
Publikováno v:
Antioxidants, Vol 11, Iss 8, p 1588 (2022)
Propionic acidaemia (PA) is an innate error of metabolism involving a deficiency in the enzyme propionyl-CoA carboxylase. Better control of acute decompensation episodes together with better treatment and monitoring have improved the prognosis of pat
Externí odkaz:
https://doaj.org/article/c63033fcc092491d91ac65c6d3af9b80
Autor:
Sinziana Stanescu, Amaya Belanger-Quintana, Carlos Alcalde Martin, Celia Pérez-Cerdá Silvestre, Begoña Merinero Cortés, Belen Gonzalez Pérez, Carmen Fernández García-Abril, Francisco Arrieta Blanco, Esperanza Palacios Valverde, Mercedes Martínez-Pardo Casanova
Publikováno v:
Case Reports in Pediatrics, Vol 2020 (2020)
Background. Multiple acyl-CoA dehydrogenase deficiency is an autosomal recessive disorder of the amino acid metabolism and fatty acid oxidation due to the deficiency of the electron transfer protein or electron transfer protein ubiquinone oxidoreduct
Externí odkaz:
https://doaj.org/article/c53ac6959a3041ea8f88045bc8ffe8da
Autor:
Francisco Arrieta, Victoria Martinez-Vaello, Nuria Bengoa, Marta Rosillo, Angélica de Pablo, Cristina Voguel, Rosario Pintor, Amaya Belanger-Quintana, Raquel Mateo-Lobo, Angel Candela, José I. Botella-Carretero
Publikováno v:
Nutrients, Vol 13, Iss 9, p 3010 (2021)
We aimed to study the possible association of stress hyperglycemia in COVID-19 critically ill patients with prognosis, artificial nutrition, circulating osteocalcin, and other serum markers of inflammation and compare them with non-COVID-19 patients.
Externí odkaz:
https://doaj.org/article/9ca03ec0789c4ed58c7b4898ad24ee4f