Zobrazeno 1 - 10
of 53
pro vyhledávání: '"María Teresa García-Silva"'
Autor:
Pilar Quijada-Fraile, Elena Arranz Canales, Elena Martín-Hernández, María Juliana Ballesta-Martínez, Encarna Guillén-Navarro, Guillem Pintos-Morell, Marc Moltó-Abad, David Moreno-Martínez, Salvador García Morillo, Javier Blasco-Alonso, María Luz Couce, Ricardo Gil Sánchez, Elisenda Cortès-Saladelafont, Mónica A. López Rodríguez, María Teresa García-Silva, Montserrat Morales Conejo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous
Externí odkaz:
https://doaj.org/article/45d102193e154f53a8b2f74d26c527a5
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:
Francisco Javier Cotrina-Vinagre, Francisco Martínez-Azorín, María Teresa García-Silva, Abraham Merino-López, Marcello Bellusci, Silvia Chumilla-Calzada, María Elena Rodríguez-García
Publikováno v:
Neuromuscular Disorders. 31:773-782
We report the case of a 16-year-old Spanish boy with cerebellar and spinal muscular atrophy, spasticity, psychomotor retardation, nystagmus, ophthalmoparesis, epilepsy, and mitochondrial respiratory chain (MRC) deficiency. Whole exome sequencing (WES
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6e11a72960db13d5513814b5e2af313
https://doi.org/10.1016/j.nmd.2021.05.008
https://doi.org/10.1016/j.nmd.2021.05.008
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 3-5 (2021)
We report a detailed clinical examination in a patient with primary coenzyme Q10 deficiency caused by biallelic mutations in the PDSS1 gene who presented clinical features of mitochondrial encephalopathy associated with pulmonary hypertension, livedo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37751e50512c30e4ae07ce874d16a0cd
https://doaj.org/article/068a3debfe9e4e0787307a85addb4270
https://doaj.org/article/068a3debfe9e4e0787307a85addb4270
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:
Laura Gort, Frederic Tort, María Teresa García-Silva, Luis Aldámiz-Echevarría, Olatz Ugarteburu, Judit García-Villoria, Antonia Ribes
Publikováno v:
Mitochondrion. 55:78-84
Pathogenic mutations in NDUFAF4 have been reported in very few cases. Here we present new data to further delineate the phenotypic spectrum of NDUFAF4 deficiency. We describe two siblings presenting with facial dysmorphia and lactic acidosis in the n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b0a31cc3dc979fbcfd36421e03202c0
https://doi.org/10.1016/j.mito.2020.09.003
https://doi.org/10.1016/j.mito.2020.09.003
Autor:
Inmaculada García-Jiménez, Raquel Yahyaoui, Ana I. Vega, Isidro Vitoria, Amaya Belanger-Quintana, Carmen Delgado-Pecellín, Begoña Merinero, Celia Pérez-Cerdá, Elvira Cañedo, M.L. Couce, María Bueno-Delgado, Magdalena Ugarte, Rosa Navarrete, María Teresa García-Silva, Pilar Quijada-Fraile, María Dolores Rausell, Belén Pérez, C. Pedrón-Giner, Lourdes R. Desviat, Fátima Leal, Sinziana Stanescu, Oscar García-Campos, Ana Moráis-López, Elena Balmaseda, Elena Martín-Hernández, Ana Bergua, Inmaculada Vives, Pilar Rodríguez-Pombo
Publikováno v:
EUROPEAN JOURNAL OF HUMAN GENETICS
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
The present work describes the value of genetic analysis as a confirmatory measure following the detection of suspected inborn errors of metabolism in the Spanish newborn mass spectrometry screening program. One hundred and forty-one consecutive DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fc70444607016cbb3a351a709b24af6
https://doi.org/10.1038/s41431-018-0330-0
https://doi.org/10.1038/s41431-018-0330-0
Autor:
Frederick M Vaz, Mariona Guitart-Mampel, Leslie Matalonga, Antonia Ribes, Sabrina Gea-Sorli, Francesc Cardellach, María Isabel Esteban Rodríguez, Isidre Ferrer, Xènia Ferrer-Cortès, Cristina Fillat, Laura Texidó, Sergi Beltran, Laura Gort, María Teresa García-Silva, Judit García-Villoria, Angela Arias, Ronald Ja Wanders, Glòria Garrabou, Olatz Ugarteburu, Ana Pristoupilova, Frederic Tort
Publikováno v:
Human mutation, 40(10), 1700-1712. Wiley-Liss Inc.
3-Methylglutaconic aciduria (3-MGA-uria) syndromes comprise a heterogeneous group of diseases associated with mitochondrial membrane defects. Whole-exome sequencing identified compound heterozygous mutations in TIMM50 (c.[341 G>A];[805 G>A]) in a boy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1931124d6e24483a9c318ea91be8d3bc
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85072717246&origin=inward
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85072717246&origin=inward
Autor:
Elena Arranz Canales, Elisenda Cortès-Saladelafont, Elena Martín-Hernández, Ricardo Gil Sánchez, Guillem Pintos-Morell, Javier Blasco-Alonso, Mónica A. López Rodríguez, David Moreno-Martinez, Encarna Guillén-Navarro, María Juliana Ballesta-Martínez, María Teresa García-Silva, María L. Couce, Pilar Quijada-Fraile, Montserrat Morales Conejo, Salvador García Morillo, Marc Moltó-Abad
Publikováno v:
ORPHANET JOURNAL OF RARE DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Scientia
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Scientia
Background Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is a progressive and disabling disease characterized by a deficiency of the enzyme N-acetylgalactosamine-6-sulphate sulphatase. Its clinical presentation is very heterogeneous and poorl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6dcee367364b7e6201af39a9a13745d3
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15195
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15195
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8d66e73dc54eaa9752a0262e8b56e2ef
https://pubmed.ncbi.nlm.nih.gov/33372917
https://pubmed.ncbi.nlm.nih.gov/33372917