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/dgaa700

مصطلحات 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

المؤلفون: Rajni Khajuria, Maria Pintaudi, Silvia Russo, Angus John Clarke, Nadia Bahi-Buisson, Barbara Montomoli, Laurent Villard, Victoria Voinova, Bruria Ben-Zeev, Kirstine Ravn, Edvige Veneselli, Thierry Bienvenu, Elisa Grillo, Francesca Cogliati, Vlatka Mejaški Bošnjak, Giorgio Pini, Mercedes Pineda, Milena Djuric, Caterina Lo Rizzo, Andreea Nissenkorn, Aglaia Vignoli, Joussef Hayek, Anne Marie Bisgaard, Dana Craiu, Alessandra Renieri, Kinga Hadzsiev, Elisa Frullanti, Aleksandra Djukic, Ana Roche Martínez, Francesca Mari, Judith Armstrong, Filomena Tiziana Papa

المساهمون: Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Biochimie et biologie moléculaire, CHU Cochin [AP-HP], Medical Genetics, Kennedy Center, Child Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Senese, University Hospital AOUS, Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics and the Institute for Genetic and Metabolic Disease (IGMD), Carol Davila university of Medicine and Pharmacy of Bucharest, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Università di Camerino (UNICAM), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), University of Medicine and Pharmacy 'Carol Davila' Bucharest (UMPCD), Università degli Studi di Camerino (UNICAM), Università degli Studi di Camerino = University of Camerino (UNICAM)

المصدر: International journal of genomics
International journal of genomics, Hindawi Publishing Corporation, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
INTERNATIONAL JOURNAL OF GENOMICS
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
International journal of genomics, 2019, 2019, pp.1-9. ⟨10.1155/2019/6956934⟩
International Journal of Genomics, Vol 2019 (2019)
International Journal of Genomics
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

مصطلحات موضوعية: lcsh:QH426-470, Article Subject, [SDV]Life Sciences [q-bio], CDKL5, MEDLINE, Pharmaceutical Science, Disease, computer.software_genre, Biochemistry, MECP2, 03 medical and health sciences, 0302 clinical medicine, Intellectual disability, Genetics, medicine, Spectrum disorder, Molecular Biology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, Database, business.industry, medicine.disease, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, Clinical trial, lcsh:Genetics, FOXG1, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, business, computer, 030217 neurology & neurosurgery, Research Article

وصف الملف: text/xhtml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e1d23d18d3ea345b75cd863d42e133Test
https://hal-amu.archives-ouvertes.fr/hal-02417606Test

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

المؤلفون: Eduardo Ruiz-Pesini, Leonardo Salviati, Mercedes Pineda, María Alcázar-Fabra, Angela Gavilán, Julio Montoya, Ana Cortés, Sonia Emperador, Maria del Mar O’Callaghan, Paz Briones, Rafael Artuch, Claudio Asencio, Plácido Navas, Raquel Montero, M. A. C. Rodríguez-Hernández, Delia Yubero

المساهمون: Fondazione Cariplo, Universidad Pablo de Olavide, Instituto de Salud Carlos III, Università degli Studi di Padova

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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مصطلحات موضوعية: 0301 basic medicine, FIS1, Male, medicine.medical_specialty, Ubiquinone, Mitochondrial disease, Molecular Sequence Data, Pyruvate Dehydrogenase Complex, Biology, Mitochondrion, Base Sequence, Brain Diseases, Child, Child, Preschool, Fatal Outcome, Fibroblasts, Humans, Infant, Mitochondria, Muscle, Mutation, Skin, Genetics, Genetics (clinical), Article, 03 medical and health sciences, chemistry.chemical_compound, Internal medicine, medicine, Citrate synthase, Preschool, Coenzyme Q10, TFAM, medicine.disease, Pyruvate dehydrogenase complex, Mitochondria, 030104 developmental biology, Endocrinology, Biochemistry, chemistry, Lactic acidosis, biology.protein, Muscle

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fccba2e65bfe05285311ef2d37de1584Test
http://hdl.handle.net/10261/163404Test

المؤلفون: Jenny Downs, Meir Lotan, Giangennaro Coppola, Gunilla Larsson, Suzanne Geerts, Bruria Ben-Zeev, Helen J Woodhead, Leanne M Ward, Jay R. Shapiro, Sue Fyfe, Batia Weiss, Torkel B. Brismar, Sue Thompson, Michael Freilinger, Kathleen J. Motil, Jane B. Lane, Daniel C. Tarquinio, Peter Humphreys, Alan K. Percy, Anne Marie Bisgaard, Amanda Jefferson, Mercedes Pineda, Carolyn Ellaway, Ingegerd Witt Engerström, Mary Jones, Helen Leonard, Steven A. Skinner, Craig F Munns, Birgit Syhler, Aris Siafarikas

المصدر: PLoS ONE, Vol 11, Iss 2, p e0146824 (2016)
PLoS One
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
PLoS ONE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Genetics and Molecular Biology (all), 0301 basic medicine, Critical Care and Emergency Medicine, Bone density, Osteoporosis, Organic chemistry, lcsh:Medicine, Biochemistry, Pediatrics, Diagnostic Radiology, Families, 0302 clinical medicine, Absorptiometry, Photon, Bone Density, Medicine and Health Sciences, Sjukgymnastik, Disease management (health), Vitamin D, Connective Tissue Diseases, lcsh:Science, Physiotherapy, Children, Trauma Medicine, Multidisciplinary, Bone Density Conservation Agents, Diphosphonates, Medicine (all), Radiology and Imaging, Pediatrik, Disease Management, Vitamins, Photon, Bone Imaging, 3. Good health, Physical sciences, Chemistry, Connective Tissue, Bone Fracture, Meta-analysis, Practice Guidelines as Topic, Anatomy, Traumatic Injury, Research Article, medicine.medical_specialty, Consensus, Imaging Techniques, Expert Testimony, Humans, Rett Syndrome, Agricultural and Biological Sciences (all), Biochemistry, Genetics and Molecular Biology (all), MEDLINE, Rett syndrome, Research and Analysis Methods, 03 medical and health sciences, Chemical compounds, Rheumatology, Diagnostic Medicine, Organic compounds, medicine, Absorptiometry, Intensive care medicine, Bone, business.industry, lcsh:R, Biology and Life Sciences, Bone fracture, medicine.disease, 030104 developmental biology, Biological Tissue, Age Groups, People and Places, Physical therapy, Population Groupings, lcsh:Q, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

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http://europepmc.org/articles/PMC4743907?pdf=renderTest

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf8e175df0f09c3684b655f1863da962Test
https://doi.org/10.1016/j.ymgme.2009.11.007Test

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a04f0f2a2465ce79b7e76df1d7c7856dTest
https://doi.org/10.1016/j.ymgme.2009.07.003Test

المؤلفون: Sofia T. Duarte, Rafael Artuch, Angeles Garcia-Cazorla, Ana G. Pérez, E. Fernández-Álvarez, Mercedes Serrano, Mercedes Pineda, Aida Ormazabal, Zuhal Yapici, P. De Castro, Roser Pons, Carlos Ortez, R. Domingo-Jiménez

المساهمون: Repositório da Universidade de Lisboa

المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
MOLECULAR GENETICS AND METABOLISM
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: Male, Endocrinology, Diabetes and Metabolism, Gene Expression, HDE NEU PED, Biochemistry, Levodopa, chemistry.chemical_compound, Endocrinology, Dopaminergic receptor type 2, Neurotransmitter, Child, Tirosina 3-Mono-Oxigenase, Dopaminergic, Vesicular transport protein, Cerebrospinal fluid, Phenotype, Dystonic Disorders, Child, Preschool, Tyrosine hydroxylase deficiency, Female, Doença de Parkinson, Adult, medicine.medical_specialty, Vesicular Monoamine Transport Proteins, Adolescent, Tyrosine 3-Monooxygenase, Neurônios Dopaminérgicos, Criança, Biology, Synaptic proteins, Young Adult, Internal medicine, Dopamine receptor D2, Genetics, medicine, Humans, Molecular Biology, Dopamine transporter, Dopamine Plasma Membrane Transport Proteins, Tyrosine hydroxylase, Infantile parkinsonism, Receptors, Dopamine D2, Líquido Cefalorraquidiano, Infant, Newborn, Vesicular monoamine transporter, chemistry, biology.protein, Membranas Sinápticas, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::911ab0ad8389aed81aff65fcbff25e07Test
https://pubmed.ncbi.nlm.nih.gov/25468651Test

المؤلفون: M. A. Vilaseca, Mercedes Pineda, Rafael Artuch, A. Aracil, Aida Ormazabal

المصدر: Neuropediatrics. 36:380-385

مصطلحات موضوعية: Biogenic Amines, medicine.medical_specialty, Adolescent, Methyl-CpG-Binding Protein 2, DNA Mutational Analysis, Leucovorin, Rett syndrome, High-performance liquid chromatography, Statistics, Nonparametric, Central nervous system disease, Folinic acid, Epilepsy, Folic Acid, Cerebrospinal fluid, Internal medicine, Biogenic amine, Rett Syndrome, Humans, Medicine, Child, chemistry.chemical_classification, Dose-Response Relationship, Drug, business.industry, General Medicine, medicine.disease, Pteroylpolyglutamic Acids, Endocrinology, Biochemistry, chemistry, Child, Preschool, Reference values, Vitamin B Complex, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11e94e64af86562412f0cc4d2f76ba4fTest
https://doi.org/10.1055/s-2005-873078Test

المؤلفون: M. A. Vilaseca, C. Busquets, Asun Aracil, A. Ribes, Mercedes Pineda, E. Christensen

المصدر: Developmental Medicine & Child Neurology. 40:840-842

مصطلحات موضوعية: Male, Oxidoreductases Acting on CH-CH Group Donors, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Dehydrogenase, Glutaryl-CoA dehydrogenase, Glutaric acid, Compound heterozygosity, Nuclear Family, Glutarates, Excretion, chemistry.chemical_compound, Developmental Neuroscience, Internal medicine, medicine, Humans, Point Mutation, Child, Amino Acid Metabolism, Inborn Errors, Dystonia, Glutaryl-CoA Dehydrogenase, Point mutation, Glutaric aciduria, medicine.disease, Endocrinology, chemistry, Biochemistry, Pediatrics, Perinatology and Child Health, Neurology (clinical), Oxidoreductases

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d88c5cad6bab43ad73f740a5699ac3f9Test
https://doi.org/10.1111/j.1469-8749.1998.tb12362.xTest