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المؤلفون: De Nittis P., Efthymiou S., Sarre A., Guex N., Chrast J., Putoux A., Sultan T., Raza Alvi J., Ur Rahman Z., Zafar F., Rana N., Rahman F., Anwar N., Maqbool S., Zaki M. S., Gleeson J. G., Murphy D., Galehdari H., Shariati G., Mazaheri N., Sedaghat A., Lesca G., Chatron N., Salpietro V., Christoforou M., Houlden H., Simonds W. F., Pedrazzini T., Maroofian R., Reymond A., SYNAPS STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Jatinder S Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Arn M. J. M. van den Maagdenberg, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shazia Maqbool, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Salvatore Mangano, Carmela Scuderi, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Hamed Sherifa.
المساهمون: University of Lausanne (UNIL), University College of London [London] (UCL), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL), Children's Hospital [Lahore], Institute of Child Health [Lahore], Children's Hospital [Multan], Institute of Child Health [Multan], National Research Centre - NRC (EGYPT), Howard Hughes Medical Institute (HHMI), Shahid Chamran University of Ahvaz (SCU), Ahvaz Jundishapur University of Medical Sciences (AJUMS), National Institutes of Health [Bethesda] (NIH), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Lausanne = University of Lausanne (UNIL), Herrada, Anthony, P., De Nitti, S., Efthymiou, A., Sarre, N., Guex, J., Chrast, A., Putoux, T., Sultan, J., Raza Alvi, Z., Ur Rahman, F., Zafar, N., Rana, F., Rahman, N., Anwar, S., Maqbool, M. S., Zaki, J. G., Gleeson, D., Murphy, H., Galehdari, G., Shariati, N., Mazaheri, A., Sedaghat, G., Lesca, N., Chatron, V., Salpietro, M., Christoforou, H., Houlden, W. F., Simond, T., Pedrazzini, R., Maroofian, A., Reymond, STUDY GROUP: SYNAPS Study Group: Stanislav Groppa, Synap, Marinova Karashova, Blagovesta, Nachbauer, Wolfgang, Boesch, Sylvia, Arning, Larissa, Timmann, Dagmar, Cormand, Bru, Pérez-Dueñas, Belen, S Goraya, Jatinder, Sultan, Tipu, Mine, Jun, Avdjieva, Daniela, Kathom, Hadil, Tincheva, Radka, Banu, Selina, Pineda-Marfa, Mercede, Veggiotti, Pierangelo, Ferrari, Michel D., van den Maagdenberg, Arn M. J. M., Verrotti, Alberto, Marseglia, Giangluigi, Savasta, Salvatore, García-Silva, Mayte, Macaya Ruiz, Alfon, Garavaglia, Barbara, Borgione, Eugenia, Portaro, Simona, Monteagudo Sanchez, Benigno, Boles, Richard, Papacostas, Savva, Vikelis, Michail, Zamba Papanicolaou, Eleni, Dardiotis, Efthymio, Maqbool, Shazia, Ibrahim, Shahnaz, Kirmani, Salman, Noureen Rana, Nuzhat, Atawneh, Osama, Koutsis, George, Mangano, Salvatore, Scuderi, Carmela, Morello, Giovanna, Stojkovic, Tanya, Zollo, Massimo, Heimer, Gali, Dauvilliers, Yves A., Striano, Pasquale, Al-Khawaja, Issam, Al-Mutairi, Fuad, Sherifa., Hamed
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, In press, ⟨10.1136/jmedgenet-2020-107015⟩مصطلحات موضوعية: Male, 0301 basic medicine, Developmental Disabilities, Batecs cardíacs, 0302 clinical medicine, Neurodevelopmental disorder, Heart Rate, Medicine, Child, Genetics (clinical), Mice, Knockout, Gnb5-null mouse models, GTP-Binding Protein beta Subunits, Cardiac muscle, Heart, Syndrome, IDDCA, Functional Genomics, Pedigree, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, cardiac conduction anomalies, Gnb5 -null mouse models, GNB5 variants, medicine.anatomical_structure, Child, Preschool, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Female, medicine.symptom, Signal Transduction, Bradycardia, Cardiac function curve, Gnb5 -null mouse model, medicine.medical_specialty, Adolescent, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Contractility, Young Adult, Brain damage, 03 medical and health sciences, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, GNB5variants, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Internal medicine, Exome Sequencing, Heart rate, Genetics, Animals, Humans, business.industry, Gene Expression Profiling, Heart beat, Proteins, Cardiac arrhythmia, Arrhythmias, Cardiac, GNB5 variant, medicine.disease, Mice, Inbred C57BL, Autonomic nervous system, 030104 developmental biology, Endocrinology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, Lesions cerebrals, cardiac conduction anomalie, business, Proteïnes, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c9ebc9c3b81e32161c102409b0091dfTest
https://doi.org/10.1136/jmedgenet-2020-107015Test -
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المؤلفون: Eugen Mengel, Daniel W. Rosenberg, Patrick Moneuse, Mercedes Pineda, Marie T. Vanier, Marc C. Patterson
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-10 (2020)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, 1-Deoxynojirimycin, Ataxia, Adolescent, Population, Natural history, Neurological symptoms, lcsh:Medicine, Swallowing, Miglustat, medicine, Humans, Pharmacology (medical), Treatment evaluation, Prospective Studies, Registries, Disease course, Enzyme Inhibitors, education, Genetics (clinical), Dystonia, education.field_of_study, business.industry, Research, Niemann-Pick disease type C, NPC disease registry, lcsh:R, Niemann-Pick Disease, Type C, General Medicine, Tolerability, medicine.disease, Dysphagia, Treatment Outcome, Female, medicine.symptom, Safety, business, medicine.drug, Cohort study
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e8e9f2bb685da4d944cec6b75beefedTest
http://link.springer.com/article/10.1186/s13023-020-01363-2Test -
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المؤلفون: Petter Strømme, Ferda Ozkinay, Heike Philippi, Pontus Wasling, Sebastien Moutton, Dagmar Timmann, Maria Vázquez-López, Pedro S Pinto, Annette Bley, A. Blaschek, Gabriel Á. Martos-Moreno, A. Micheil Innes, Alan Hill, Argirios Dinopoulos, Fiona Haslam McKenzie, Janice M. Fletcher, Barbara Plecko, Hanna Mierzewska, Matthis Synofzik, Cathy A. Stevens, Raphael Schiffmann, Janina Gburek-Augustat, Miriam Nickel, Constantin Polychronakos, Kether Guerrero, Susan M. Kirwin, Icíar Cimas, Inga Harting, Bwee Tien Poll-The, Vera Popovic, Coriene E. Catsman-Berrevoets, Simona Orcesi, Nicole I. Wolf, Laura Roos, Grace M. Hobson, Norberto Rodriguez Espinosa, Gert Wiegand, Bernard Brais, Julia Rankin, Marjo S. van der Knaap, Cyril Goizet, Michelle Demos, Sandra Pekic, Ingrid Tejera-Martin, Adeline Vanderver, Stefanie Perrier, Brent L. Fogel, Eriskay Liston, Meriel McEntagart, Ferdy K. Cayami, Bart P.C. van de Warrenburg, Anne Ronan, Paolo Gasparini, Bernard Corenblum, Joost Rotteveel, Mercedes Pineda Marfa, Roberta La Piana, Richard Webster, Eugen Boltshauser, Amytice Mirchi, Dietz Rating, Klara Brozova, Ingeborg Krägeloh-Mann, Marcelo Andrés Kauffman, Nesrin Senbil, Gerhard Kluger, Brenda Banwell, Flavio Faletra, Michel Sylvain, Urania Kotzaeridou, Tahir Atik, Raymond Fernandez, Stephan Saikali, William S. Benko, Fernando I Monton, Dorota Gieruszczak-Białek, Dolores Gonzalez Moron, Charles Marques Lourenço, Amy Pizzino, Ana Potic, Elsa Rossignol, Ton J. de Grauw, William T. Gibson, Luan T. Tran, Davide Tonduti, Rosalina M. L. van Spaendonk, Rocío Sánchez-Carpintero, Raymond P J Murphy, Guillaume Sébire, Daniela Pohl, Joshua L. Bonkowsky, Christopher Clough, Sandya Tirupathi, Maria Eugenia Garcia Garcia, Christoph Hertzberg, Serge Melançon, Anjum Misbahuddin, Félixe Pelletier, Evangeline Wassmer, Gail Dolan, Marie-France Rioux, Geneviève Bernard, Sunita Venkateswaran, Steffi Patzer, Aline Hamati, Helio Pedro, Hüseyin Onay, Drago Bratkovic, Petra Kolditz, Daniel Tibussek, Sakkubai Naidu, Nicole Ulrick, Emmanouil Rampakakis, William McClintock, Anna Schossig, Mohnish Suri, Grace Yoon, László Sztriha, John R. Østergaard
المساهمون: Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Canadian Institutes of Health Research, Fonds de recherche du Québec, Fonds de Recherche du Québec - Santé, Neurology, Functional Genomics, Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L., Tibussek, D., Timmann, D., Tonduti, D., van de Warrenburg, B. P., Vazquez-Lopez, M., Venkateswaran, S., Wasling, P., Wassmer, E., Webster, R. I., Wiegand, G., Yoon, G., Rotteveel, J., Schiffmann, R., van der Knaap, M. S., Vanderver, A., Martos-Moreno, G. A., Polychronakos, C., Wolf, N. I., Bernard, G., Human genetics, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Cellular & Molecular Mechanisms
المصدر: Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sébire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M S, Vanderver, A, Martos-Moreno, G, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700Test
Pelletier, F, Perrier, S, Cayami, F K, Mirchi, A, Saikali, S, Tran, L T, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, R M L, Naidu, S, Pohl, D, Gibson, W T, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, B L, Brais, B, Sylvain, M, Sebire, G, Lourenço, C M, Bonkowsky, J L, Catsman-Berrevoets, C, Pinto, P S, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, W S, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, M E, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, G M, Innes, A M, Kauffman, M, Kirwin, S M, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, F I, Moutton, S, Murphy, R P J, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, B T, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, J R, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, L K, Stevens, C A, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, B P, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, R I, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, M, Vanderver, A, Martos-Moreno, G Á, Polychronakos, C, Wolf, N I & Bernard, G 2021, ' Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C ', The Journal of clinical endocrinology and metabolism, vol. 106, no. 2, pp. e660-e674 . https://doi.org/10.1210/clinem/dgaa700Test
Journal of Clinical Endocrinology and Metabolism, 106, 2, pp. e660-e674
Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2021, 106 (2), pp.E660-E674. ⟨10.1210/clinem/dgaa700⟩
Journal of Clinical Endocrinology and Metabolism, 106(2), E660-E674. Endocrine Society
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. Oxford University Press
The Journal of Clinical Endocrinology and Metabolism
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Clinical Endocrinology and Metabolism, 106, e660-e674
The Journal of clinical endocrinology and metabolism, 106(2), e660-e674. The Endocrine Society
The journal of clinical endocrinology & metabolism 106(2), e660-e674 (2021). doi:10.1210/clinem/dgaa700مصطلحات موضوعية: Male, Recessive Mutations, Mitochondrial Diseases, genetics [Mitochondrial Diseases], hypomyelination, etiology [Endocrine System Diseases], Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Medizin, POLR3A protein, human, genetics [Endocrine System Diseases], Biochemistry, Cohort Studies, 0302 clinical medicine, Endocrinology, etiology [Growth Disorders], Diagnosis, epidemiology [Growth Disorders], 4H leukodystrophy, Online Only articles, Child, Prospective cohort study, Growth Disorders, genetics [Growth Disorders], POLR3-related leukodystrophy, 0303 health sciences, DNA-Directed RNA Polymerases, Pattern-Recognition, Diffuse Hypomyelination, Classification, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], 3. Good health, epidemiology [Hereditary Central Nervous System Demyelinating Diseases], Hormone Deficiency, POLR1C protein, human, Child, Preschool, Female, medicine.symptom, AcademicSubjects/MED00250, Adult, Delayed puberty, Subunit, medicine.medical_specialty, Adolescent, Context (language use), Endocrine System Diseases, Short stature, genetics [Hereditary Central Nervous System Demyelinating Diseases], Genetic Heterogeneity, Young Adult, 03 medical and health sciences, SDG 3 - Good Health and Well-being, hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism, etiology [Hypogonadism], Internal medicine, medicine, genetics [RNA Polymerase III], Humans, Endocrine system, ddc:610, POLR3B protein, human, genetics [DNA-Directed RNA Polymerases], Clinical Research Articles, Retrospective Studies, 030304 developmental biology, complications [Hereditary Central Nervous System Demyelinating Diseases], business.industry, Hypogonadism, Biochemistry (medical), Leukodystrophy, Infant, Newborn, Infant, RNA Polymerase III, medicine.disease, complications [Mitochondrial Diseases], epidemiology [Mitochondrial Diseases], epidemiology [Endocrine System Diseases], Hereditary Central Nervous System Demyelinating Diseases, Cross-Sectional Studies, Biological Variation, Population, Mutation, epidemiology [Hypogonadism], business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Hormone
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1343e0c39bf5133e3bb46b5d53289c04Test
https://hdl.handle.net/1871.1/41a14d43-770b-4a89-bd8f-5704f4571b69Test -
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المؤلفون: Vera Malinova, Katarína Juríčková, Christian Velten, Jose Luis Insua, Stefan A. Kolb, Miriam Kolnikova, Mercedes Pineda, Parvaneh Karimzadeh
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Ataxia, 1-Deoxynojirimycin, Lipid storage disorder, Adolescent, lcsh:Medicine, Disease, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Niemann-pick disease type C, Miglustat, Medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), Retrospective Studies, Niemann–Pick disease, type C, business.industry, Research, Disease characteristics, lcsh:R, NP-C disability scales, Niemann-Pick Disease, Type C, General Medicine, medicine.disease, Prognosis, Hypotonia, Child, Preschool, Developmental Milestone, Linear Models, NP-C, Observational study, Female, medicine.symptom, business, 030217 neurology & neurosurgery, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d19db477a07f853d203289f613c5a812Test
https://pubmed.ncbi.nlm.nih.gov/30732631Test -
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المؤلفون: Stefan A. Kolb, Eugen Mengel, Christian J. Hendriksz, Juan V. Torres, Mercedes Pineda, Mark Walterfang
المصدر: Molecular genetics and metabolism. 120(3)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Disease, Biochemistry, Discriminatory power, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, medicine, Genetics, Prevalence, Cluster Analysis, Humans, In patient, Age of Onset, Child, Molecular Biology, Niemann–Pick disease, type C, business.industry, Mental Disorders, Disease progression, Age Factors, Infant, Newborn, Infant, Niemann-Pick Disease, Type C, Middle Aged, medicine.disease, Hypotonia, Viscera, 030104 developmental biology, Child, Preschool, Cohort, Developmental Milestone, Splenomegaly, Disease Progression, Female, medicine.symptom, Nervous System Diseases, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::379a1fb833cff2c296589cb2fd342bb2Test
https://pubmed.ncbi.nlm.nih.gov/27993458Test -
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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: Fatih Süheyl Ezgü, Kaustuv Bhattacharya, Raymond Y. Wang, Roberto Giugliani, Max Holtz, Brett H. Graham, Mahmut Çoker, Rena E. Falk, José Francisco da Silva Franco, Robert D. Steiner, Alfons Macaya, Robert M. Greenstein, William S. Sly, Grant A. Mitchell, Ngu Lock-Hock, Gregory M. Pastores, Mercedes Pineda, Loreta Cimbalistiene, Laila Arash, Klane K. White, Antonio González-Meneses, Anastasia K. Ketko, Michael Beck, Marina Szlago, Adriana M. Montaño, Dennis Bartholomew, Akemi Tanaka, Mark S. Sands
المساهمون: Ege Üniversitesi
المصدر: JOURNAL OF MEDICAL GENETICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of medical genetics, London : BMJ Publishing group, 2016, vol. 53, iss. 6, p. 403-418
Journal of medical genetics, vol 53, iss 6
Journal of Medical Geneticsمصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Mucopolysaccharidosis, Sly syndrome, Hepatosplenomegaly, Metabolic disorders, Mucopolysaccharidosis VII, Medical and Health Sciences, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Hydrops fetalis, Surveys and Questionnaires, medicine, Genetics, Humans, Medical history, Clinical genetics, Family history, Preschool, Child, Genetics (clinical), Glucuronidase, Genetics & Heredity, business.industry, Genotype-Phenotype Correlations, Infant, Enzyme replacement therapy, Biological Sciences, medicine.disease, Lysosomal Storage Diseases, 030104 developmental biology, Phenotype, Clinical genetics, Genetics, Metabolic disorders, Child, Preschool, Female, medicine.symptom, business, 030217 neurology & neurosurgery, MPS, lysosomal storage disease, β-glucuronidase
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https://hdl.handle.net/10668/9860Test -
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المؤلفون: Mercedes Pineda, Raquel Montero, Maria del Mar O’Callaghan, Rafael Artuch, Verónica Delgadillo
المصدر: Journal of Inherited Metabolic Disease. 34:1039-1044
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Administration, Oral, Genistein, Pilot Projects, Mucopolysaccharidosis type III, Severity of Illness Index, Drug Administration Schedule, Mucopolysaccharidosis III, Young Adult, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Humans, Substrate reduction therapy, In patient, Child, Genetics (clinical), Sanfilippo syndrome, chemistry.chemical_classification, business.industry, Heparan sulfate, Enzyme replacement therapy, medicine.disease, Treatment Outcome, Endocrinology, Enzyme, chemistry, Child, Preschool, Dietary Supplements, Quality of Life, Female, business
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https://doi.org/10.1007/s10545-011-9342-4Test -
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المؤلفون: L. Martín Fumero, M.J. Coll, María Socorro Pérez-Poyato, O. Blanco de la Barca, L. Ruiz Portal, R. Domingo, J. Macías-Vidal, Maria del Mar O’Callaghan, A. Verdú Pérez, M.T. García Silva, Mercedes Pineda, M. A. Vilaseca, Miguel Pocovi, T. Temudo, S. Roldán, J.J. Garcia Peñas, Ana Maria Coimbra Gaspar
المصدر: Molecular Genetics and Metabolism. 99:358-366
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Endocrinology, Diabetes and Metabolism, Disease, Biochemistry, Asymptomatic, Cognition, Endocrinology, Internal medicine, Miglustat, Genetics, medicine, Humans, Child, Adverse effect, Molecular Biology, Niemann–Pick disease, type C, business.industry, Age Factors, Niemann-Pick Disease, Type C, medicine.disease, Surgery, Diarrhea, Tolerability, Child, Preschool, Female, Nervous System Diseases, medicine.symptom, Niemann–Pick disease, business, medicine.drug
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https://doi.org/10.1016/j.ymgme.2009.11.007Test -
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المؤلفون: Thorsten Marquardt, Mark Walterfang, G.C. Korenke, Wuh-Liang Hwu, Ruben Giorgino, Marc C. Patterson, C. Luzy, Mercedes Pineda, James E. Wraith, Eugen Mengel, Bruno Bembi, Marianne Rohrbach, Frédéric Sedel
المساهمون: University of Zurich, Pineda, M
المصدر: Molecular Genetics and Metabolism. 98:243-249
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, 1-Deoxynojirimycin, 1303 Biochemistry, Adolescent, Endocrinology, Diabetes and Metabolism, 610 Medicine & health, Disease, Biochemistry, Cohort Studies, Endocrinology, 1311 Genetics, Miglustat, 1312 Molecular Biology, Genetics, Humans, Medicine, Enzyme Inhibitors, Child, Molecular Biology, Retrospective Studies, Niemann–Pick disease, type C, business.industry, Niemann-Pick Disease, Type C, Retrospective cohort study, medicine.disease, 1310 Endocrinology, Clinical trial, 2712 Endocrinology, Diabetes and Metabolism, Treatment Outcome, 10036 Medical Clinic, Cohort, Female, business, Niemann–Pick disease, Cohort study, medicine.drug
وصف الملف: 27300_V.pdf - application/pdf
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https://doi.org/10.1016/j.ymgme.2009.07.003Test