المؤلفون: Gámez Abascal, María Alejandra, Serrano, Mercedes, Gallego Martínez, Diana, Vilas Lagoa, Alicia, Pérez González, María Belén

المساهمون: UAM. Departamento de Biología Molecular

مصطلحات موضوعية: Congenital disorders of glycosylation, Mannose, Pharmacological chaperones, Phosphomannomutase, PMM2-CDG, Proteostasis regulators, Biología y Biomedicina / Biología

وصف الملف: application/pdf

العلاقة: Biochimica et Biophysica Acta - General Subjects; https://doi.org/10.1016/j.bbagen.2020.129686Test; BBA -General Subjects 1864.11 (2020): 129686; 0304-4165 (print); http://hdl.handle.net/10486/709748Test; 129686-1; 11; 129686-34; 1864

الإتاحة: https://doi.org/10.1016/j.bbagen.2020.129686Test
http://hdl.handle.net/10486/709748Test

المؤلفون: Ana Maria Fortuna, Isaura Ribeiro, Gert Matthijs, Francisco Ferraz Laranjeira, Jaak Jaeken, Dulce Quelhas, Luísa Azevedo, Ana Medeira, Helena Cabral Fernandes, Ana C. Ferreira, Sílvia Sequeira, A.F. Oliveira, Paula Garcia, Carla Mendonça, Valerie Race, Liesbeth Keldermans, Anabela Bandeira, Elisa Leão Teles, Esmeralda Rodrigues, Erica Souche, Patrícia Janeiro, Ana Maria Minarelli Gaspar, Luísa Diogo, Esmeralda Martins

المصدر: The Journal of Pediatrics. 231:148-156

مصطلحات موضوعية: Male, Time Factors, Adolescent, HDE MTB, congenital disorder(s) of glycosylation, PMM2 genotype, Cohort Studies, Young Adult, 03 medical and health sciences, symbols.namesake, Congenital Disorders of Glycosylation, 0302 clinical medicine, 030225 pediatrics, PGM1, Humans, Medicine, 030212 general & internal medicine, Allele, Child, Exome sequencing, Genetics, Sanger sequencing, Massive parallel sequencing, Portugal, business.industry, Transferrin, Infant, DPAGT1, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Congenital disorder/glycosylation, symbols, Female, CDG, business, Phosphomannomutase

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef67a3c026723b5172eea4bf5b70bb75Test
https://doi.org/10.1016/j.jpeds.2020.12.026Test

المؤلفون: Belén Pérez, Francisco Del Caño-Ochoa, Vicente Rubio, Álvaro Briso-Montiano, Alicia Vilas, Santiago Ramón-Maiques, Adrián Velázquez-Campoy

المساهمون: Centro de Investigación Biomédica en Red Enfermedades Raras (España), Comunidad de Madrid, La Caixa, Fundación Isabel Gemio, Fundación Ramón Areces, Ministerio de Ciencia e Innovación (España)

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Jaeken syndrome, Glycosylation, Chemistry, Human mutations, Structure-function correlations, Molecular pathogenesis, Protein structure, Congenital Disorders of Glycosylation, Jaeken syndrome, PMM2-CDG, Biochemistry, Phosphotransferases (Phosphomutases), Mutation, Genetics, Inborn errors, Humans, Pmm2 cdg, Genetics (clinical), Phosphomannomutase, Congenital disorder of glycosylation type 1, X-ray crystallography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3f2564aa998d9fad68455af94a40f78Test
https://pubmed.ncbi.nlm.nih.gov/34859900Test

المؤلفون: Gámez, Alejandra, Serrano, Mercedes, Gallego, Diana, Vilas, Alicia, Pérez, Belén

المساهمون: Instituto de Salud Carlos III, Comunidad de Madrid, Fundación Isabel Gemio, Fundación la Caixa, Generalitat de Catalunya, European Commission

مصطلحات موضوعية: PMM2-CDG, Phosphomannomutase, Congenital disorders of glycosylation, Mannose, Pharmacological chaperones, Proteostasis regulators

العلاقة: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020 (ISCIII)/PI19%2F01155/ES/ENFOQUE CROSS-OMICO PARA EL DESCUBRIMIENTO DE LA BASE GENETICA DE ERRORES INNATOS DEL METABOLISMO Y PARA UNA INTERVENCION TERAPEUTICA PERSONALIZADA/; info:eu-repo/grantAgreement/ISCIII/Plan Estatal de Investigación Científica y Técnica y de Innovación 2013-2016 (ISCIII)/PI17%2F00101/ES/ATROFIA CEREBELOSA EN LA INFANCIA: DESARROLLO DE HERRAMIENTAS CLINICO-RADIOLOGICAS PARA UN FENOTIPADO DE PRECISION, ALGORITMO DIAGNOSTICO INTEGRAL E IDENTIFICACION DE NUEVOS GENES/; B2017/BMD-3721; The underlying dataset has been published as supplementary material of the article in the publisher platform at https://doi.org/10.1016/j.bbagen.2020.129686Test; https://doi.org/10.1016/j.bbagen.2020.129686Test; Sí; Biochimica et Biophysica Acta - General Subjects 1864(11): 129686 (2020); http://hdl.handle.net/10261/342506Test

الإتاحة: https://doi.org/10.1016/j.bbagen.2020.129686Test
http://hdl.handle.net/10261/342506Test

المؤلفون: Andrea Campo, Rosa Navarrete, Mónica Ruiz-Pons, Lucía Martín‐Viota, Celia Medrano, M. Luz Couce, M. Luisa Girós, Luis González-Gutiérrez-Solana, Ignacio Arroyo, M. Jesús Ecay, M. Rosario Domingo‐Jiménez, Celia Pérez-Cerdá, Inmaculada García-Jiménez, Rocío Calvo, Loreto Hierro, Ana I. Vega, Magdalena Ugarte, Susana Roldán, Belén Pérez, M. Teresa García-Silva, Francisco Mártinez‐Bugallo, Dirk Lefeber, J. Cabrera, Miguel Tomás, Mercedes Serrano Gimare, Elena Martín-Hernández, Samuel I. Pascual, Laura Toledo, Isidro Vitoria-Miñana, Mercedes Martínez-Pardo

المصدر: Clinical Genetics, 95, 5, pp. 615-626
CLINICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Clinical Genetics, 95, 615-626
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Glycan, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Adolescent, non-PMM2-CDG, 030105 genetics & heredity, Bioinformatics, Genetic analysis, 03 medical and health sciences, chemistry.chemical_compound, Congenital Disorders of Glycosylation, All institutes and research themes of the Radboud University Medical Center, PGM1, Genetics, medicine, Humans, Child, Genetics (clinical), chemistry.chemical_classification, biology, business.industry, serum transferrin, Infant, DPAGT1, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Hypotonia, 030104 developmental biology, chemistry, Phosphotransferases (Phosphomutases), Spain, Child, Preschool, biology.protein, next-generation sequencing, Female, medicine.symptom, Glycoprotein, business, Phosphomannomutase, congenital disorders of glycosylation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d246b2c5b6da0c6a3a3f9035627572c8Test
https://hdl.handle.net/2066/203306Test

المؤلفون: Belén Pérez, Alejandra Gámez, Mercedes Serrano, Alicia Vilas, Diana Gallego

المصدر: Biochimica et biophysica acta. General subjects. 1864(11)

مصطلحات موضوعية: 0301 basic medicine, Drug, Glycosylation, media_common.quotation_subject, Mutant, Biophysics, Mannose, Disease, Bioinformatics, Biochemistry, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Congenital Disorders of Glycosylation, Drug Discovery, Medicine, Animals, Humans, Pmm2 cdg, Enzyme Inhibitors, Molecular Biology, media_common, business.industry, Phosphomannomutase 2 deficiency, medicine.disease, 030104 developmental biology, Antisense Elements (Genetics), chemistry, Phosphotransferases (Phosphomutases), business, Congenital disorder of glycosylation, 030217 neurology & neurosurgery, Phosphomannomutase

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::390f26073c9751345a26de30b69e3b63Test
https://pubmed.ncbi.nlm.nih.gov/32712172Test

المؤلفون: Gámez A, Serrano M, Gallego D, Vilas A, Pérez-Dueñas B

المصدر: BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

مصطلحات موضوعية: Proteostasis regulators, Congenital disorders of glycosylation, Mannose, Phosphomannomutase, Pharmacological chaperones, PMM2-CDG

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d02bd3773e9a5bd2e92117c724d450c1Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17997Test

المؤلفون: Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F., López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M. Llanos, González Gutiérrez-Solana, Luis, Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, R., Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya Ruiz, Alfons, Fernández-Fernández, José M., Serrano, Mercedes, Universitat Autònoma de Barcelona

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 2, p 619 (2018)
International Journal of Molecular Sciences
Recercat. Dipósit de la Recerca de Catalunya
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
International Journal of Molecular Sciences; Volume 19; Issue 2; Pages: 619
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

مصطلحات موضوعية: 0301 basic medicine, Male, Cerebellum, ataxia, cerebellum, congenital disorders of glycosylation, magentic resonance Imaging (MRI), stroke-like, CaV2.1 voltage-gated calcium channel, Glycosylation, medicine.disease_cause, lcsh:Chemistry, 0302 clinical medicine, Congenital disorders of glycosylation, Child, Stroke, lcsh:QH301-705.5, Spectroscopy, Familial hemiplegic migraine, Mutation, Tunicamycin, Electroencephalography, General Medicine, Phenotype, Magnetic Resonance Imaging, Computer Science Applications, medicine.anatomical_structure, Phosphotransferases (Phosphomutases), Child, Preschool, Female, medicine.symptom, Ion Channel Gating, congenital, hereditary, and neonatal diseases and abnormalities, Ataxia, Adolescent, Stroke-like, Catalysis, Article, Inorganic Chemistry, 03 medical and health sciences, Ca2.1 voltage-gated calcium channel, Channelopathy, Cerebellar Diseases, medicine, Humans, Amino Acid Sequence, Physical and Theoretical Chemistry, Molecular Biology, business.industry, Organic Chemistry, Magentic resonance Imaging (MRI), medicine.disease, 030104 developmental biology, HEK293 Cells, lcsh:Biology (General), lcsh:QD1-999, Immunology, Channelopathies, Calcium Channels, business, 030217 neurology & neurosurgery, Phosphomannomutase

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f669886ffd55882153549ffc08c1695cTest
https://ddd.uab.cat/record/253453Test

المؤلفون: Martinez-Monseny T, Cuadras-Palleja D, Bolasell M, Muchart-Lopez J, Arjona-Fernandez C, Borregan M, Algrabli A, Montero-Sanchez R, Artuch-Iriberri R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M

المصدر: JOURNAL OF MEDICAL GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: cerebellar disorders, phosphomannomutase, dysmorphology, congenital disorders of glycosylation, automated facial analysis software

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0b3620263fb201ee8c2da1e4c6634707Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=15340Test

المؤلفون: Tomas Honzik, Antonio F. Martinez, Federic Tort, David Cassiman, Joana Correia, Christian Thiel, Simone Funke, Mari Anne Vals, Carlota Pascoal, Hossein Moravej, Katrin Õunap, Rita Barone, Marlen Hutter, Małgorzata Seroczyńska, Hudson H. Freeze, Ruqaiah Altassan, María Eugenia de la Morena-Barrio, Anna Cechova, Kimiyo Raymond, Dulce Quelhas, Carlos Ferreira, Matthijs Gert, Delphine Borgel, Trinidad Hernández-Caselles, David Coman, Romain Péanne, Paula A. Videira, Renate Zeevaert, Dorinda Marques-da-Silva, Stephanie Grunewald, Nathalie Seta, Javier Corral, Muad Bidet, Rita Francisco, Mercedes Serrano, Jaak Jaeken, Peter Witters, Manuel Schiff, Thatjana Gardeitchik, Joy Lee, Peymaneh Sarkhail, Christina Lam, Agata Fiumara, Pascale de Lonlay, Tiffany Pascreau, Sandra Brasil, Muriel Girad, Eva Morava, Dirk Lefeber, Marc C. Patterson, Marisa Giros, Donna M. Krasnewich, Jolanta Sykut-Cegielska, Vanessa dos Reis

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease, 42, 5-28
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Inherited Metabolic Disease, 42, 1, pp. 5-28

مصطلحات موضوعية: medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Genetics, Genetics (clinical), business.industry, MEDLINE, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Guideline, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Congenital Disorders of Glycosylation, Diagnosis treatment, Multidisciplinary approach, Phosphotransferases (Phosphomutases), medicine, Humans, Presentation (obstetrics), Intensive care medicine, business, Clinical evaluation, Phosphomannomutase, Congenital disorder, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae285ac9e00a9e5f1fe580c5329ea2abTest
http://hdl.handle.net/20.500.11769/360623Test