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المؤلفون: Ester López-Gallardo, Leticia Pias-Peleteiro, Pilar Bayona-Bafaluy, Alejandra Darling, Anna Codina, Plácido Navas, Eduardo Ruiz-Pesini, Angels García-Cazorla, Rafael Artuch, Frederic Tort, Julio Montoya, Cecilia Jimenez-Mallebrera, Juan Darío Ortigoza-Escobar, Antonia Ribes, Sonia Emperador, Andrés Nascimento, Cristina Jou, Delia Yubero, César Arjona, Mercedes Pineda, Judith Armstrong, Belén Pérez-Dueñas, Maria del Mar O’Callaghan, Francesc Palau, Laura Gort, Raquel Montero
المصدر: Journal of Clinical Medicine
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Volume 8
Issue 1
Zaguán. Repositorio Digital de la Universidad de Zaragoza
Journal of Clinical Medicine, Vol 8, Iss 1, p 68 (2019)مصطلحات موضوعية: Weakness, Mitochondrial DNA, Pathology, medicine.medical_specialty, Mitochondrial disease, lcsh:Medicine, Exercise intolerance, Article, 03 medical and health sciences, biochemical markers, 0302 clinical medicine, muscle histopathology, medicine, Cytochrome c oxidase, Myopathy, 030304 developmental biology, next generation sequencing, mitochondrial diseases, 0303 health sciences, pediatric patients, biology, business.industry, lcsh:R, General Medicine, medicine.disease, Nuclear DNA, Cohort, biology.protein, medicine.symptom, business, 030217 neurology & neurosurgery, myopathy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1ccd5045efa1224ac08119e00d8b565Test
https://doi.org/10.3390/jcm8010068Test -
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المؤلفون: Maria del Socorro Perez-Poyato, Mercedes Pineda
المصدر: Expert Opinion on Orphan Drugs. 1:915-923
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Health Policy, Disease, Intracellular cholesterol transport, Filipin, Organomegaly, stomatognathic diseases, chemistry.chemical_compound, chemistry, Miglustat, otorhinolaryngologic diseases, medicine, Cancer research, Pharmacology (medical), Substrate reduction therapy, NPC1, medicine.symptom, Adverse effect, business, Pharmacology, Toxicology and Pharmaceutics (miscellaneous), medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::ee397f702b57c3c41ccb68b9bfe54263Test
https://doi.org/10.1517/21678707.2013.849583Test -
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المؤلفون: James E. Wraith, Christian J. Hendriksz, Michael C Fahey, Frits A. Wijburg, Frédéric Sedel, Stefan A. Kolb, Mark Walterfang, Mercedes Pineda, Harbajan Chadha-Boreham, Marc C. Patterson
المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Paediatric Metabolic Diseases
المصدر: Journal of inherited metabolic disease, 37(1), 93-101. Springer Netherlands
Journal of Inherited Metabolic Diseaseمصطلحات موضوعية: Male, Risk, Pathology, medicine.medical_specialty, Pediatrics, Ataxia, Adolescent, Disease, Decision Support Techniques, Genetics, medicine, Humans, Mass Screening, Genetics(clinical), Screening tool, Child, Genetics (clinical), Mass screening, Retrospective Studies, Prediction score, Niemann–Pick disease, type C, business.industry, Data Collection, Age Factors, Infant, Niemann-Pick Disease, Type C, Retrospective cohort study, medicine.disease, Logistic Models, Phenotype, Psychotic Disorders, ROC Curve, Child, Preschool, Splenomegaly, Female, Original Article, medicine.symptom, Cognition Disorders, business, Niemann–Pick disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::780e9d915ab35b897771f453789ee938Test
https://doi.org/10.1007/s10545-013-9626-yTest -
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المؤلفون: Mercedes Serrano, Carlos Ortez, Jaime Campistol, Mercedes Pineda, E. Fernández-Álvarez, Angels García-Cazorla, Belén Pérez-Dueñas
المصدر: European Journal of Paediatric Neurology. 15:295-302
مصطلحات موضوعية: Nervous system, Pathology, medicine.medical_specialty, Pediatrics, Neurodegeneration with brain iron accumulation, Hypokinesia, Disease, Biology, Diagnosis, Differential, Parkinsonian Disorders, medicine, Humans, Child, Parkinsonism, Brain Diseases, Metabolic, Inborn, Syndrome, General Medicine, Hypoxia (medical), medicine.disease, Muscle Rigidity, medicine.anatomical_structure, Carbidopa, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, Encephalitis, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8ffbed982d9e0759c7a0e47661c00147Test
https://doi.org/10.1016/j.ejpn.2011.04.013Test -
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المؤلفون: Mercedes Pineda, Mercedes Serrano, Angels García-Cazorla, Nicole I. Wolf, Emilio Fernández-Alvarez, Jaime Campistol, Georg F. Hoffmann, Salvatore DiMauro, Jaume Colomer, Belén Pérez-Dueñas
المساهمون: Pediatric surgery, NCA - Childhood White Matter Diseases
المصدر: Journal of Inherited Metabolic Disease, 32(5), 618-629. Springer Netherlands
Garcia-Cazorla, A, Wolf, N I, Serrano, M, Perez-Duenas, B, Pineda, M, Campistol, J, Fernandez-Alvarez, E, Colomer, J, DiMauro, S & Hoffmann, G F 2009, ' Inborn errors of metabolism and motor disturbances in children ', Journal of Inherited Metabolic Disease, vol. 32, no. 5, pp. 618-629 . https://doi.org/10.1007/s10545-009-1194-9Testمصطلحات موضوعية: Pathology, medicine.medical_specialty, Ataxia, Movement disorders, Diagnosis, Differential, Physical medicine and rehabilitation, Genetics, medicine, Humans, Spasticity, Motor Neuron Disease, Child, Genetics (clinical), Athetosis, Dystonia, Movement Disorders, business.industry, Parkinsonism, Peripheral Nervous System Diseases, Motor disturbances, medicine.disease, Muscle Spasticity, medicine.symptom, Differential diagnosis, business, Algorithms, Metabolism, Inborn Errors
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e89aba0f6740f2ab221f030e8afcc4eTest
https://doi.org/10.1007/s10545-009-1194-9Test -
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المؤلفون: Rafael Artuch, Mercedes Pineda, A. Mas, A. Aracil, E Monrós, M. A. Vilaseca
المصدر: Neuropediatrics. 35:95-98
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Antioxidant, Ataxia, Adolescent, Ubiquinone, medicine.medical_treatment, Coenzymes, Positive correlation, Antioxidants, Central nervous system disease, Cerebrospinal fluid, Internal medicine, Benzoquinones, medicine, Humans, Idebenone, Child, Total protein, business.industry, General Medicine, medicine.disease, Endocrinology, Blood-Brain Barrier, Friedreich Ataxia, Case-Control Studies, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, Treatment monitoring, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c478050558b391d3cd35f057fae0fb76Test
https://doi.org/10.1055/s-2004-815830Test -
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المؤلفون: Mercedes Pineda, Ronald Ja Wanders, Marisa Giros, Bwee Tien Poll-The, François Eyskens, Hanna Mandel, Jean-Marie Saudubray, Jeannette Gootjes, Marc Espeel, Frank Roels
المصدر: Journal of Inherited Metabolic Disease. 26:1-228
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Endocrinology, business.industry, Internal medicine, Peroxisomal disorder, Genetics, medicine, Erythropoietic protoporphyria, medicine.disease, business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::56fcbb5a8218e5118730f638bc00bc5aTest
https://doi.org/10.1023/a:1024858629434Test -
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المؤلفون: Simona Orcesi, Kimberly A. Chapman, Marjo S. van der Knaap, John S. Bamforth, Jodie Vento, Brendan C. Lanpher, Charles Marques Lourenço, Adeline Vanderver, Amy Waldman, Saskia A J Lesnik Oberstein, Johanna L. Schmidt, Andrea L. Gropman, Ilana Kahn, Helger G. Yntema, Jens Schallner, Carsten G. Bönnemann, Cynthia Sharpe, Mercedes Pineda, Olaf Bodamer, Davide Tonduti, Erik A. Sistermans, Livija Medne, Phillip L. Pearl
المساهمون: NCA - Brain mechanisms in health and disease, Human genetics, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Other departments
المصدر: American Journal of Medical Genetics. Part A, 164, 627-33
Vanderver, A, Tonduti, D, Kahn, I, Schmidt, J, Medne, L, Vento, J, Chapman, K A, Lanpher, B, Pearl, P, Gropman, A, Lourenco, C, Bamforth, J S, Sharpe, C, Pineda, M, Schallner, J, Bodamer, O, Orcesi, S, Oberstein, S A J L, Sistermans, E A, Yntema, H G, Bonnemann, C, Waldman, A T & van der Knaap, M S 2014, ' Characteristic Brain Magnetic Resonance Imaging Pattern in Patients With Macrocephaly and PTEN Mutations ', American Journal of Medical Genetics Part A, vol. 164, no. 3, pp. 627-633 . https://doi.org/10.1002/ajmg.a.36309Test
American Journal of Medical Genetics Part A, 164(3), 627-633
American Journal of Medical Genetics Part A, 164(3), 627-633. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 164, 3, pp. 627-33
American journal of medical genetics. Part A, 164(3), 627-633. Wiley-Liss Inc.مصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, perivascular, PTEN, leukoencephalopathy, Cephalometry, autism spectrum disorder, macrocephaly, Article, White matter, Leukoencephalopathy, Neuroimaging, Internal medicine, Medicine, Hamartoma, Humans, magnetic resonance imaging, genetics, Perivascular space, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Genetics (clinical), medicine.diagnostic_test, biology, business.industry, Macrocephaly, Infant, Newborn, PTEN Phosphohydrolase, Brain, Infant, Magnetic resonance imaging, medicine.disease, Megalencephaly, medicine.anatomical_structure, Endocrinology, Child, Preschool, Mutation, biology.protein, hamartoma, Female, medicine.symptom, business, Hamartoma Syndrome, Multiple
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1df74ca52cab489fdf787ca1c32c270Test
http://hdl.handle.net/2066/127553Test -
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المؤلفون: Mercedes Pineda, Sofia T. Duarte, Pere Sala-Castellvi, Andrés Nascimento, Rafael Garesse, Julio Montoya, Angels García-Cazorla, Rafael Artuch, Ines Carrilho, Aida Ormazabal, Paz Briones, Mercedes Serrano
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Male, medicine.medical_specialty, Pathology, Mitochondrial Diseases, Mitochondrial disease, Dopamine Agents, Hypomimia, Respiratory chain, Biology, Diagnosis, Differential, Levodopa, Consanguinity, Electron Transport Complex III, Cerebrospinal fluid, Hypokinesia, Internal medicine, medicine, Humans, Lactic Acid, Molecular Biology, Dystonia, Neurotransmitter Agents, Alanine, Electron Transport Complex I, Electron Transport Complex II, Infant, Newborn, Brain, Infant, Homovanillic Acid, Cell Biology, Hydroxyindoleacetic Acid, medicine.disease, Pterins, Radiography, Endocrinology, Treatment Outcome, Child, Preschool, Molecular Medicine, Female, medicine.symptom, Differential diagnosis, Myoclonus
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69756a73c30e73d6621a18a951f736d7Test
https://pubmed.ncbi.nlm.nih.gov/18558519Test -
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المؤلفون: Mercedes Pineda, M. Baquero, A. R-Palmero, M.S. van der Knaap, A. Aracil, G.C. Scheper, Maria del Mar O’Callaghan
المساهمون: Neuroscience Campus Amsterdam 2008, Other departments, Pediatric surgery
المصدر: Pineda, M, Palmero, A, Baquero, M, O'Callaghan, M, Aracil, A, van der Knaap, M S & Scheper, G C 2008, ' Vanishing white matter disease associated with progressive macrocephaly ', Neuropediatrics, vol. 39, no. 1, pp. 29-32 . https://doi.org/10.1055/s-2008-1076738Test
Neuropediatrics, 39(1), 29-32. Hippokrates Verlag GmbHمصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Adolescent, Cerebellar Ataxia, Eukaryotic Initiation Factor-2, Disease, White matter, Central nervous system disease, Leukoencephalopathy, SDG 3 - Good Health and Well-being, medicine, Humans, Megalencephaly, Child, medicine.diagnostic_test, business.industry, Macrocephaly, Brain, Magnetic resonance imaging, General Medicine, Prognosis, medicine.disease, Magnetic Resonance Imaging, Hereditary Central Nervous System Demyelinating Diseases, Phenotype, medicine.anatomical_structure, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Age of onset, medicine.symptom, Tomography, X-Ray Computed, business, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61d5b18b3189f29f4f830e226e64706dTest
https://research.vumc.nl/en/publications/35307337-c1df-4eb2-b35f-16eeaf958db7Test
