المؤلفون: Wen, Anita, Zhu, Ying, Yee, Sook Wah, Park, Brian I, Giacomini, Kathleen M, Greenberg, Andrew S, Newman, John W

المصدر: Metabolites. 13(8)

مصطلحات موضوعية: Medical Biochemistry and Metabolomics, Biomedical and Clinical Sciences, Neurosciences, Digestive Diseases, Nutrition, thiamine, thiamine transporter 2, THTR2, brain metabolism, metabolomics, Analytical Chemistry, Biochemistry and Cell Biology, Clinical Sciences, Biochemistry and cell biology, Medical biochemistry and metabolomics, Analytical chemistry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9jv1c190Test

المؤلفون: Anita Wen, Ying Zhu, Sook Wah Yee, Brian I. Park, Kathleen M. Giacomini, Andrew S. Greenberg, John W. Newman

المصدر: Metabolites; Volume 13; Issue 8; Pages: 885

مصطلحات موضوعية: thiamine, thiamine transporter 2, THTR2, brain metabolism, metabolomics

وصف الملف: application/pdf

العلاقة: Advances in Metabolomics; https://dx.doi.org/10.3390/metabo13080885Test

الإتاحة: https://doi.org/10.3390/metabo13080885Test

مرشدي الرسالة: UAM. Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa (CBMSO), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)

المصدر: Orphanet Journal of Rare Diseases 9 (2014): 92
92-1
92-10
9

مصطلحات موضوعية: Biotin, Biotin responsive basal ganglia disease, Dystonia, Lactic acidosis, Leigh syndrome, SLC19A3, Striatal necrosis, Thiamine, Thiamine transporter 2 deficiency, Biología y Biomedicina / Biología

الوصول الحر: http://hdl.handle.net/10486/684838Test

المؤلفون: Ortigoza-Escobar, Juan Darío, Serrano, Mercedes, Molero, Marta, Oyarzabal, Alfonso, Rebollo, Mónica, Muchart, Jordi, Artuch, Rafael, Rodríguez-Pombo, Pilar, Pérez-Dueñas, Belén

المساهمون: UAM. Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa (CBM), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)

مصطلحات موضوعية: Biotin, Biotin responsive basal ganglia disease, Dystonia, Lactic acidosis, Leigh syndrome, SLC19A3, Striatal necrosis, Thiamine, Thiamine transporter 2 deficiency, Biología y Biomedicina / Biología

وصف الملف: application/pdf

العلاقة: Orphanet Journal of Rare Diseases; https://doi.org/10.1186/1750-1172-9-92Test; Gobierno de España. PI12/02010; Gobierno de España. PI12/02078; Orphanet Journal of Rare Diseases 9 (2014): 92; http://hdl.handle.net/10486/684838Test; 92-1; 92-10

الإتاحة: https://doi.org/10.1186/1750-1172-9-92Test
http://hdl.handle.net/10486/684838Test

المؤلفون: BEHENSKY, Magdalena Maria

مصطلحات موضوعية: large deletion, basal ganglia necrosis, complete deletion, SLC25A3, SLC19A3, recurrent encephalopathy, mitochondrial diseases, point mutation, partial deletion, thiamine transporter 2, rare genetic diseases, PiC deficiency, phosphate carrier

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2186::d528b99b1c9bf08615ad3889872ac3dfTest
http://www.nusl.cz/ntk/nusl-518951Test

المؤلفون: Ortigoza-Escobar, Juan Darío, Serrano, Mercedes, Molero, Marta, Oyarzábal, Alfonso, Rebollo, Mónica, Muchart, J., Artuch, Rafael, Rodríguez-Pombo, Pilar, Pérez-Dueñas, Belén

المساهمون: Centro de Investigación Biomédica en Red Enfermedades Raras (España), Generalitat de Catalunya

مصطلحات موضوعية: Thiamine transporter 2 deficiency, Biotin responsive basal ganglia disease, SLC19A3, Leigh syndrome, Lactic acidosis, Thiamine, Biotin, Striatal necrosis, Dystonia

العلاقة: Publisher's version; http://dx.doi.org/10.1186/1750-1172-9-92Test; Sí; Orphanet Journal of Rare Diseases 9(1): 92 (2014); http://hdl.handle.net/10261/125836Test; http://dx.doi.org/10.13039/501100002809Test

الإتاحة: https://doi.org/10.1186/1750-1172-9-92Test
https://doi.org/10.13039/501100002809Test
http://hdl.handle.net/10261/125836Test

المؤلفون: Ortigoza-Escobar, Juan, Serrano, Mercedes, Molero, Marta, Oyarzabal, Alfonso, Rebollo, Mónica, Muchart, Jordi, Artuch, Rafael, Rodríguez-Pombo, Pilar, Pérez-Dueñas, Belén

مصطلحات موضوعية: Thiamine transporter 2 deficiency, Biotin responsive basal ganglia disease, SLC19A3, Leigh syndrome, Lactic acidosis, Thiamine, Biotin, Striatal necrosis, Dystonia

العلاقة: http://www.ojrd.com/content/9/1/92Test

الإتاحة: http://www.ojrd.com/content/9/1/92Test

المؤلفون: Marcé-Grau A, Marti-Sanchez L, Baide-Mairena H, Ortigoza-Escobar JD, Pérez-Dueñas B

المصدر: JOURNAL OF INHERITED METABOLIC DISEASE
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: thiamine transporter 2 deficiency, Leigh syndrome, thiamine, TPK1, thiamine responsive megaloblastic anemia, food and beverages, Rogers syndrome, SLC25A19, SLC19A3, human activities, SLC19A2

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1286b03bc187236a7d8cf50c9e439d44Test
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=16280Test

المؤلفون: Marta Molero, Juan Darío Ortigoza-Escobar, Pilar Rodríguez-Pombo, Rafael Artuch, Mercedes Serrano, Mónica Rebollo, Jordi Muchart, Belén Pérez-Dueñas, Alfonso Oyarzabal

المساهمون: Centro de Investigación Biomédica en Red Enfermedades Raras (España), Generalitat de Catalunya, UAM. Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa (CBM), Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)

المصدر: Biblos-e Archivo. Repositorio Institucional de la UAM
instname
Orphanet Journal of Rare Diseases
Digital.CSIC. Repositorio Institucional del CSIC

مصطلحات موضوعية: Male, Gastroenterology, Genetics(clinical), Pharmacology (medical), Thiamine, Child, Basal ganglia disease, Genetics (clinical), Medicine(all), Dystonia, biology, Lactic acidosis, food and beverages, General Medicine, Biología y Biomedicina / Biología, Magnetic Resonance Imaging, Treatment Outcome, Child, Preschool, SLC19A3, Female, Leigh Disease, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Encephalopathy, Biotin, Striatal necrosis, Internal medicine, medicine, Humans, Leigh disease, Monitoring, Physiologic, Thiamine transporter 2 deficiency, business.industry, Research, Biotin responsive basal ganglia disease, Infant, Membrane Transport Proteins, nutritional and metabolic diseases, medicine.disease, Leigh syndrome, Endocrinology, biology.protein, Differential diagnosis, business, human activities

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b16c8a36e3cba73e42208100ace23592Test
http://hdl.handle.net/10261/125836Test

مصطلحات الفهرس: Thiamine transporter 2 deficiency, Biotin responsive basal ganglia disease, SLC19A3, Leigh syndrome, Lactic acidosis, Thiamine, Biotin, Striatal necrosis, Dystonia, artículo

URL: http://hdl.handle.net/10261/125836Test
Publisher's version
http://dx.doi.org/10.1186/1750-1172-9-92Test
Sí