Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Raquel, Pérez Delgado"'
Autor:
David Molina Herranz, Amelia Moreno Sánchez, Gema Carmen Marcén, Belén Salinas Salvador, Raquel Pérez Delgado, Silvia Izquierdo Álvarez
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-6 (2023)
Abstract Background The SHANK gene, located on chromosome 11q13.3-q13.4, encodes the SHANK2 protein with a function in neuronal synapses. An error in coding can alter the development of typical cognitive, linguistic and social skills. However, its al
Externí odkaz:
https://doaj.org/article/3b2a828be25a4ee0b5a27a8405a51847
Deficiencia de lipasa ácida lisosomal: una causa poco reconocida de dislipemia y disfunción hepática
Autor:
Marta Marín Andrés, Ignacio Ros Arnal, Jorge Javier Cebolla Sanz, Raquel Pérez Delgado, María Concepción García Jiménez
Publikováno v:
Anales de Pediatría, Vol 94, Iss 1, Pp 50-51 (2021)
Externí odkaz:
https://doaj.org/article/1b5648075b324fa4afe479ccd4830eb5
Autor:
Marta Marín Andrés, Ignacio Ros Arnal, Jorge Javier Cebolla Sanz, Raquel Pérez Delgado, María Concepción García Jiménez
Publikováno v:
Anales de Pediatría (English Edition), Vol 94, Iss 1, Pp 50-51 (2021)
Externí odkaz:
https://doaj.org/article/70734a62074c4f7d886e4ddac3e2881a
Autor:
David, Molina Herranz, Amelia, Moreno Sánchez, María Violeta, Fariña Jara, Raquel, Pérez Delgado, José Ignacio, Labarta Aizpún, Silvia, Sánchez Marco, Silvia, Izquierdo Álvarez, Javier, López Pisón
Publikováno v:
Andes pediatrica : revista Chilena de pediatria. 93(3)
Allan-Herndon-Dudley syndrome is a rare X-linked genetic disorder, caused by a deficiency of the monocarboxylate transporter 8 (MCT8), a specific transporter of thyroid hormones, with functions mainly at the brain level. The syndrome produces an earl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e498305a890cdd12654ff3586444d2c1
https://pubmed.ncbi.nlm.nih.gov/35857015
https://pubmed.ncbi.nlm.nih.gov/35857015
Publikováno v:
Medicina Clínica. 157:589-590
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4229398541802ffcca5e691c8bab61bf
https://doi.org/10.1016/j.medcli.2021.01.019
https://doi.org/10.1016/j.medcli.2021.01.019
Publikováno v:
Medicina Clínica (English Edition). 157:589-590
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2f10f5a77ab41b5537bc0f27045f4d46
https://doi.org/10.1016/j.medcle.2021.01.019
https://doi.org/10.1016/j.medcle.2021.01.019
Autor:
David Molina Herranz, Amelia Moreno Sánchez, María Violeta Fariña Jara, Raquel Pérez Delgado, Jose Ignacio Labarta Aizpún, Silvia Sánchez Marco, Silvia Izquierdo Álvarez, Javier López Pisón
Publikováno v:
Andes Pediatrica. 93:428
El síndrome de Allan-Herndon-Dudley es un raro trastorno genético, ligado al cromosoma X, producido por déficit del transportador monocarboxilato 8 (MCT8), que es un transportador específico de hormonas tiroideas principalmente a nivel cerebral.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::69849a50a9a78eee7d970e1d4da55965
https://doi.org/10.32641/andespediatr.v93i3.3904
https://doi.org/10.32641/andespediatr.v93i3.3904
Autor:
Sara M Barbed Ferrández, Ignacio Ros Arnal, Ruth García Romero, Nerea Torrecilla Idoipe, Inés Romagosa Sánchez-Monge, Raquel Pérez Delgado
Publikováno v:
Archivos Argentinos de Pediatria. 119
Mucopolysaccharidosis type IIIB is a lysosomal storage disease caused by a deficiency of the N-acetyl-alpha-d-glucosaminidase enzyme involved in the catabolism of heparan sulfate, causing its accumulation in various tissues. We present an 8-year-old
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf34c058a884b142d371a14966b16666
https://doi.org/10.5546/aap.2021.e138
https://doi.org/10.5546/aap.2021.e138
Autor:
Silvia Beatriz Sánchez Marco, Raquel Pérez Delgado, Miguel Lafuente Hidalgo, José L. Segura, Javier López Pisón, Amparo López Lafuente
Publikováno v:
Journal of Pediatric Neurology. 20:235-236
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e14c19f795b32ac568ce42b7019bc618
https://doi.org/10.1055/s-0041-1732483
https://doi.org/10.1055/s-0041-1732483
Autor:
Sara M, Barbed Ferrández, Ruth, García Romero, Raquel, Pérez Delgado, Inés, Romagosa Sánchez-Monge, Ignacio, Ros Arnal, Nerea, Torrecilla Idoipe
Publikováno v:
Archivos argentinos de pediatria. 119(2)
Mucopolysaccharidosis type IIIB is a lysosomal storage disease caused by a deficiency of the N-acetyl-alpha-d-glucosaminidase enzyme involved in the catabolism of heparan sulfate, causing its accumulation in various tissues. We present an 8-year-old
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::84fc814e0e26af46ef2fbd91769ce199
https://pubmed.ncbi.nlm.nih.gov/33749204
https://pubmed.ncbi.nlm.nih.gov/33749204