Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Silvia Chumillas Calzada"'
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:
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
Autor:
Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Cañedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, María Luz Couce, Dolores García-Arenas, Igor Gómez, Tomás Hernández, Elsa Izquierdo-García, Dámaris Martínez Chicano, Montserrat Morales, Consuelo Pedrón-Giner, Estrella Petrina Jáuregui, Luis Peña-Quintana, Paula Sánchez-Pintos, Juliana Serrano-Nieto, María Unceta Suarez, Isidro Vitoria Miñana, Javier de las Heras
Publikováno v:
Journal of Clinical Medicine, Vol 10, Iss 13, p 2932 (2021)
Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and sorbitol (FSS)-restrictive diet
Externí odkaz:
https://doaj.org/article/423736d83a654f508e84a853c783debd
Autor:
Ainara Cano, Carlos Alcalde, Amaya Belanger-Quintana, Elvira Cañedo-Villarroya, Leticia Ceberio, Silvia Chumillas-Calzada, Patricia Correcher, María Luz Couce, Dolores García-Arenas, Igor Gómez, Tomás Hernández, Elsa Izquierdo-García, Dámaris Martínez Chicano, Montserrat Morales, Consuelo Pedrón-Giner, Estrella Petrina Jáuregui, Luis Peña-Quintana, Paula Sánchez-Pintos, Juliana Serrano-Nieto, María Unceta Suarez, Isidro Vitoria Miñana, Javier de las Heras
Publikováno v:
EUROPEAN JOURNAL OF CLINICAL NUTRITION
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Background Hereditary fructose intolerance (HFI) is a rare inborn error of fructose metabolism caused by the deficiency of aldolase B. Since treatment consists of a fructose-, sucrose- and sorbitol-restrictive diet for life, patients are at risk of p
Autor:
Ana, Cambra Conejero, Laura, Martínez Figueras, Alicia, Ortiz Temprado, Paula, Blanco Soto, Álvaro, Martín Rivada, Laura, Palomino Pérez, Elvira, Cañedo Villarroya, Consuelo, Pedrón Giner, Pilar, Quijada Fraile, Elena, Martín-Hernández, María Teresa, García Silva, Silvia, Chumillas Calzada, Marcello, Bellusci, Amaya, Belanger-Quintana, Sinziana, Stanescu, Mercedes, Martínez-Pardo Casanova, Ana, Moráis López, Ana, Bergua Martínez, Pedro, Ruiz-Salas, Belén, Pérez González, Magdalena, Ugarte, Miguel L F, Ruano
Publikováno v:
Revista espanola de salud publica. 94
Tandem mass spectrometry (MS/MS) is being used for newborn screening since this laboratory testing technology increases the number of metabolic disorders that can be detected from dried blood-spot specimens. In the Community of Madrid, it was impleme
Autor:
Luis Cabezón-Gutiérrez, Sara Custodio-Cabello, Magda Palka-Kotlowska, PIlar Quijada-Fraile, Silvia Chumillas-Calzada
Publikováno v:
Cureus
Urea cycle disorders (UCDs) are an unusual genetic condition that may lead to hyperammonemia in catabolic situations such as surgery, infections or chemotherapy administration. Without specific treatment, it causes life-threatening encephalopathy. We
Autor:
María Soriano-Ramos, María Teresa Pinilla Martín, Gerardo Bustos Lozano, Carmen Elia García Soria, Carmen Rosa Pallás-Alonso, Silvia Chumillas Calzada
Publikováno v:
Journal of Parenteral and Enteral Nutrition. 43:419-425
BACKGROUND Early hypophosphatemia is common in premature infants ≤1250 g. The aim of this study was to assess the frequency and severity of hypophosphatemia after sodium glycerophosphate supplementation from first day of life in parenteral nutritio