المؤلفون: Juan Buendía-Martínez, María Barreda-Sánchez, Lidya Rodríguez-Peña, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Elena Pérez-Tomás, Remedios Gil-Ferrer, Francisco Avilés-Plaza, Guillermo Glover-López, Carmen Carazo-Díaz, Encarna Guillén-Navarro

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)

مصطلحات موضوعية: Acute intermittent porphyria, Chronic symptoms, Quality of life, Sporadic attacks, Chronic kidney disease, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/2d572edc54f34f60976ee25f97abbae7Test

المؤلفون: María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López, Encarna Guillén-Navarro, GIEDE (Spanish multidisciplinary research group for ectodermal dysplasia)

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Ectodermal derivative impairment, hypohidrotic ectodermal dysplasia, Non-syndromic tooth agenesis, Hypodontia, EDA, EDAR, EDARADD, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/16b59a2700154415b1be767b79cb1ab8Test

المؤلفون: María Barreda-Sánchez, Juan Buendía-Martínez, Guillermo Glover-López, Carmen Carazo-Díaz, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, Remedios Gil-Ferrer, Maria del Carmen Martínez-Romero, Pablo Carbonell-Meseguer, Encarna Guillén-Navarro

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: Acute intermittent porphyria, Founder mutation, Penetrance, CYP2D6, Susceptibility factor, Acute attacks, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-019-1031-7Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/e6051122f8c44006bef3af61a9858543Test

المؤلفون: Pedro Mondejar-Lopez, Anna Zolin, Patricia W. Garcia-Marcos, M( extordfeminine) Dolores Pastor-Vivero, Maria Rosa-Silvestre, Francisco de Asis Sanchez-Martinez, Donatello Salvatore, Giuseppe Cimino, Fabio Majo, Amparo Sole-Jover, Oscar Asensio de la Cruz, Maria Adelaide Calderazzo, Giovanna Pizzamiglio, Silvia Castillo-Corullon, Antonio Alvarez-Fernandez, Silvia Gartner, Rita Padoan, Vincenzo Carnovale, Marco Salvatore, M( extordfeminine) Rosa Moya-Quiles, Annalisa Orenti, Guillermo Glover, Manuel Sanchez-Solis

المساهمون: P. Mondejar-Lopez, A. Zolin, P.W. Garcia-Marco, M. extordfeminine) Dolores Pastor-Vivero, M. Rosa-Silvestre, F. de Asis Sanchez-Martinez, D. Salvatore, G. Cimino, F. Majo, A. Sole-Jover, O. Asensio de la Cruz, M. Adelaide Calderazzo, G. Pizzamiglio, S. Castillo-Corullon, A. Alvarez-Fernandez, S. Gartner, R. Padoan, V. Carnovale, M. Salvatore, M. extordfeminine) Rosa Moya-Quile, A. Orenti, G. Glover, M. Sanchez-Solis

مصطلحات موضوعية: A1006E, Cystic fibrosi, Genotype, Missense mutation, Phenotype, Settore MED/10 - Malattie dell'Apparato Respiratorio, Settore MED/01 - Statistica Medica

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35032736; info:eu-repo/semantics/altIdentifier/wos/WOS:000752427100007; volume:192; firstpage:1; lastpage:7; numberofpages:7; journal:RESPIRATORY MEDICINE; http://hdl.handle.net/2434/896175Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85122620189

الإتاحة: https://doi.org/10.1016/j.rmed.2022.106736Test
http://hdl.handle.net/2434/896175Test

المؤلفون: Guillermo Glover-López, Lidya Rodriguez-Peña, María Elena Pérez-Tomás, María Barreda-Sánchez, Carmen Carazo-Díaz, Ana Teresa Serrano-Antón, María José Sánchez-Soler, Vanesa López-González, Remedios Gil-Ferrer, Juan Buendía-Martínez, E. Guillén-Navarro, Francisco Avilés-Plaza, María Juliana Ballesta-Martínez

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-8 (2021)
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Quality of life, 0301 basic medicine, Abdominal pain, medicine.medical_specialty, Attack rate, lcsh:Medicine, Renal function, Disease, 03 medical and health sciences, 0302 clinical medicine, Surveys and Questionnaires, Chronic kidney disease, Internal medicine, medicine, Humans, Acute intermittent porphyria, Pharmacology (medical), 030212 general & internal medicine, Renal Insufficiency, Chronic, Genetics (clinical), business.industry, Research, Medical record, Chronic symptoms, lcsh:R, General Medicine, medicine.disease, Sporadic attacks, 030104 developmental biology, Spain, Porphyria, Acute Intermittent, medicine.symptom, business, Kidney disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764554db816072b981f1c2d55c103176Test
https://doi.org/10.1186/s13023-021-01742-3Test

المؤلفون: María-Isabel Tejada, Guillermo Glover, Francisco Martínez, Miriam Guitart, Yolanda de Diego-Otero, Isabel Fernández-Carvajal, Feliciano J. Ramos, Concepción Hernández-Chico, Elizabet Pintado, Jordi Rosell, María-Teresa Calvo, Carmen Ayuso, María-Antonia Ramos-Arroyo, Hiart Maortua, Montserrat Milà

المصدر: BioMed Research International, Vol 2014 (2014)

مصطلحات موضوعية: Medicine

العلاقة: http://dx.doi.org/10.1155/2014/195793Test; https://doaj.org/toc/2314-6133Test; https://doaj.org/toc/2314-6141Test; https://doaj.org/article/f93d7f6dd5ab428980523e5a270c9b22Test

الإتاحة: https://doi.org/10.1155/2014/195793Test
https://doaj.org/article/f93d7f6dd5ab428980523e5a270c9b22Test

المؤلفون: Inmaculada Pérez-Sánchez, Juan Ramón Gimeno-Blanes, Guillermo Glover, Maria Elisa Nicolas Rocamora, María Sabater-Molina, Fuensanta Escudero, Pedro de Mingo Casado

المصدر: Current Gene Therapy. 18:246-251

مصطلحات موضوعية: Male, musculoskeletal diseases, 0301 basic medicine, Duchenne muscular dystrophy, Cardiomyopathy, Penetrance, medicine.disease_cause, Dystrophin, 03 medical and health sciences, 0302 clinical medicine, Drug Discovery, Genetics, medicine, Humans, KCNJ5 Gene, Muscular dystrophy, Molecular Biology, Genetics (clinical), Sequence Deletion, Aged, 80 and over, Mutation, biology, Psychomotor retardation, business.industry, Prognosis, medicine.disease, Muscular Dystrophy, Duchenne, Phenotype, 030104 developmental biology, G Protein-Coupled Inwardly-Rectifying Potassium Channels, Child, Preschool, biology.protein, Molecular Medicine, Female, medicine.symptom, Carrier Proteins, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d5306bbb7adc03bad8bd40809cc809eTest
https://doi.org/10.2174/1566523218666180709125346Test

المؤلفون: Remedios Gil-Ferrer, María Juliana Ballesta-Martínez, Guillermo Glover-López, Juan Buendía-Martínez, Carmen Carazo-Díaz, Vanesa López-González, E. Guillén-Navarro, Pablo Carbonell-Meseguer, María Barreda-Sánchez, Lidya Rodriguez-Peña, Ana Teresa Serrano-Antón, María José Sánchez-Soler, Maria del Carmen Martínez-Romero

المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Porphobilinogen, lcsh:Medicine, Penetrance, 030105 genetics & heredity, 0302 clinical medicine, Genotype, Genomic medicine, Prevalence, Medicine, Pharmacology (medical), Genetics (clinical), Acute intermittent porphyria, education.field_of_study, CYP2D6, Susceptibility factor, General Medicine, Middle Aged, Cytochrome P-450 CYP2D6, Creatinine, Female, Adult, Adolescent, Hydroxymethylbilane Synthase, Population, 03 medical and health sciences, Young Adult, Genetic predisposition, Humans, Genetic Predisposition to Disease, Allele, education, CYP3A5, Founder mutation, Aged, Acute attacks, business.industry, Research, lcsh:R, medicine.disease, Personalized medicine, Spain, Porphyria, Acute Intermittent, Immunology, Mutation, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56ffc39960cc139e30faf72f9ef83b15Test
https://pubmed.ncbi.nlm.nih.gov/30808393Test

المؤلفون: Paloma Sánchez-Pedreño, E. Guillén-Navarro, M.T. Martínez-Menchón, Lidya Rodriguez-Peña, Vanesa López-González, Guillermo Glover-López, M.C. Martinez, P. Carbonell, María Juliana Ballesta-Martínez, María Barreda-Sánchez

المصدر: Journal of Investigative Dermatology. 137:S239

مصطلحات موضوعية: medicine.medical_specialty, business.industry, medicine, Cell Biology, Dermatology, Hypohidrotic ectodermal dysplasia, medicine.disease, business, Molecular Biology, Biochemistry

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ffe62c8060bf577cede995602ab99589Test
https://doi.org/10.1016/j.jid.2017.07.269Test

المؤلفون: Encarna Guillén, Guillermo Glover

المصدر: Anales de Pediatría Continuada. 2:360-364

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health, Biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f74814c243a2994c835d6195c801a614Test
https://doi.org/10.1016/s1696-2818Test(04)71668-6