المؤلفون: Mark Mencias, Michelle Levene, Kevin Blighe, Bridget Bax, on behalf of the Project Group

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 7; Pages: 3681

مصطلحات موضوعية: MNGIE, Mitochondrial neurogastrointestinal encephalomyopathy, miRNA, biomarker, mitochondrial disease, thymidine phosphorylase, erythrocyte encapsulated thymidine phosphorylase, outcome measures, miR-34a-5p

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms22073681Test

الإتاحة: https://doi.org/10.3390/ijms22073681Test

المؤلفون: Hecht M., Kipper K., Antunes N.J., Fairbanks L.D., Levene M., Uçar S.K., Schaefer A.

مصطلحات موضوعية: EE-TP, liquid chromatography-mass spectrometry, mass spectrometry, 2’-deoxyuridine, Erythrocyte encapsulated thymidine phosphorylase, LC, Method validation, Mitochondrial neurogastrointestinal encephalomyopathy, MS/MS, Thymidine, deoxyuridine derivative, accuracy, analytic method, Article, calibration, erythrocyte, clinical Article, controlled study, enzyme replacement, human, limit of detection, limit of quantitation, MNGIE syndrome, pharmacodynamics, plasma, protein analysis, protein stability, proteomics, quality control, urinalysis

العلاقة: Journal of Clinical Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://hdl.handle.net/11454/79920Test; https://doi.org/10.3390/jcm9030788Test

الإتاحة: https://doi.org/10.3390/jcm9030788Test
https://hdl.handle.net/11454/79920Test

المؤلفون: Kipper K., Hecht M., Antunes N.J., Fairbanks L.D., Levene M., Uçar S.K., Schaefer A.

مصطلحات موضوعية: 2’-deoxyuridine, EE-TP, Erythrocyte encapsulated thymidine phosphorylase, LC, Method validation, Mitochondrial neurogastrointestinal encephalomyopathy, MS/MS, Thymidine, deoxyuridine derivative, accuracy, analytic method, Article, calibration, clinical article, controlled study, enzyme replacement, erythrocyte, human, limit of detection, limit of quantitation, liquid chromatography-mass spectrometry, mass spectrometry, MNGIE syndrome, pharmacodynamics, plasma, protein analysis, protein stability, proteomics, quality control, urinalysis

العلاقة: Journal of Clinical Medicine; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; https://doi.org/10.3390/jcm9030788Test; https://hdl.handle.net/11454/79920Test; 2-s2.0-85085099468

الإتاحة: https://doi.org/10.3390/jcm9030788Test
https://hdl.handle.net/11454/79920Test

المؤلفون: Karin Kipper, Max Hecht, Natalicia Antunes, Lynette Fairbanks, Michelle Levene, Sema Kalkan Uçar, Andrew Schaefer, Emma Blakely, Bridget Bax

المصدر: Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 788

مصطلحات موضوعية: LC–MS/MS, method validation, thymidine, 2’-deoxyuridine, mitochondrial neurogastrointestinal encephalomyopathy, erythrocyte encapsulated thymidine phosphorylase, EE-TP

وصف الملف: application/pdf

العلاقة: Clinical Laboratory Medicine; https://dx.doi.org/10.3390/jcm9030788Test

الإتاحة: https://doi.org/10.3390/jcm9030788Test

المؤلفون: Levene, Michelle, Bax, Bridget E., Bain, Murray D., Fairbanks, Lynette D., Filosto, Massimiliano, Klopstock, Thomas, Kornblum, Cornelia, Mandel, Hanna, Rahman, Shamima, Roubertie, Agathe, Scarpelli, Mauro, Sedgwick, Philip M., Baru, Moshe, Sellos-Moura, Marcia, Price, Jeanie, Horn, Patrick, Nirmalananthan, Niranjanan, Ucar, Sema Kalkan

مصطلحات موضوعية: MNGIE, mitochondrial neurogastrointestinal encephalomyopathy, TYMP, enzyme replacement, erythrocyte encapsulated thymidine phosphorylase, thymidine phosphorylase, mitochondrial disease, rare disease, orphan disease, Phase II, multiple dose

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Journal of Clinical Medicine; https://hdl.handle.net/11454/28713Test; https://doi.org/10.3390/jcm8081096Test

الإتاحة: https://doi.org/10.3390/jcm8081096Test
https://hdl.handle.net/11454/28713Test

المؤلفون: Bax, Bridget E., Levene, Michelle, Bain, Murray D., Fairbanks, Lynette D., Filosto, Massimiliano, Ucar, Sema Kalkan, Klopstock, Thomas, Kornblum, Cornelia, Mandel, Hanna, Rahman, Shamima, Roubertie, Agathe, Scarpelli, Mauro, Sedgwick, Philip M., Baru, Moshe, Sellos-Moura, Marcia, Price, Jeanie, Horn, Patrick, Nirmalananthan, Niranjanan

المساهمون: Ege Üniversitesi

مصطلحات موضوعية: mitochondrial neurogastrointestinal encephalomyopathy, MNGIE, TYMP, enzyme replacement, erythrocyte encapsulated thymidine phosphorylase, thymidine phosphorylase, mitochondrial disease, rare disease, orphan disease, Phase II, multiple dose

العلاقة: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Journal of Clinical Medicine; https://doi.org/10.3390/jcm8081096Test; https://hdl.handle.net/11454/28713Test

الإتاحة: https://doi.org/10.3390/jcm8081096Test
https://hdl.handle.net/11454/28713Test

المؤلفون: Bax, BE, Levene, M, Bain, MD, Fairbanks, LD, Filosto, M, Kalkan Uçar, S, Klopstock, T, Kornblum, C, Mandel, H, Rahman, S, Roubertie, A, Scarpelli, M, Sedgwick, PM, Baru, M, Sellos-Moura, M, Price, J, Horn, P, Nirmalananthan, N

المصدر: MDPI — JCM , 8 (8) , Article 1096. (2019)

مصطلحات موضوعية: MNGIE, Phase II, TYMP, enzyme replacement, erythrocyte encapsulated thymidine phosphorylase, mitochondrial disease, mitochondrial neurogastrointestinal encephalomyopathy, multiple dose, orphan disease, rare disease, thymidine phosphorylase

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10079375/8/Rahman_Erythrocyte%20Encapsulated%20Thymidine%20Phosphorylase%20for%20the%20Treatment%20of%20Patients%20with%20Mitochondrial%20Neurogastrointestinal%20Encephalomyopathy_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10079375Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10079375/8/Rahman_Erythrocyte%20Encapsulated%20Thymidine%20Phosphorylase%20for%20the%20Treatment%20of%20Patients%20with%20Mitochondrial%20Neurogastrointestinal%20Encephalomyopathy_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10079375Test/

المؤلفون: Bridget E. Bax, Michelle Levene, Murray D. Bain, Lynette D. Fairbanks, Massimiliano Filosto, Sema Kalkan Uçar, Thomas Klopstock, Cornelia Kornblum, Hanna Mandel, Shamima Rahman, Agathe Roubertie, Mauro Scarpelli, Philip M. Sedgwick, Moshe Baru, Marcia Sellos-Moura, Jeanie Price, Patrick Horn, Niranjanan Nirmalananthan

المصدر: Journal of Clinical Medicine; Volume 8; Issue 8; Pages: 1096

مصطلحات موضوعية: mitochondrial neurogastrointestinal encephalomyopathy, MNGIE, TYMP, enzyme replacement, erythrocyte encapsulated thymidine phosphorylase, thymidine phosphorylase, mitochondrial disease, rare disease, orphan disease, Phase II, multiple dose

وصف الملف: application/pdf

العلاقة: Clinical Neurology; https://dx.doi.org/10.3390/jcm8081096Test

الإتاحة: https://doi.org/10.3390/jcm8081096Test

المؤلفون: Cornelia Kornblum, Sema Kalkan Uçar, Moshe Baru, Agathe Roubertie, Murray D. Bain, Jeanie Price, Marcia Sellos-Moura, Shamima Rahman, Patrick Horn, Philip Sedgwick, Mauro Scarpelli, Lynette D. Fairbanks, Thomas Klopstock, Massimiliano Filosto, Bridget E. Bax, Hanna Mandel, Michelle Levene, Niranjanan Nirmalananthan

المساهمون: Ege Üniversitesi

المصدر: Journal of Clinical Medicine
Journal of Clinical Medicine 8(8), 1096 (2019). doi:10.3390/jcm8081096
Journal of Clinical Medicine, Vol 8, Iss 8, p 1096 (2019)
Volume 8
Issue 8

مصطلحات موضوعية: TYMP, Mitochondrial disease, lcsh:Medicine, rare disease, Pharmacology, thymidine phosphorylase, Article, 03 medical and health sciences, chemistry.chemical_compound, erythrocyte encapsulated thymidine phosphorylase, 0302 clinical medicine, medicine, ddc:610, orphan disease, Thymidine phosphorylase, 030304 developmental biology, 0303 health sciences, mitochondrial neurogastrointestinal encephalomyopathy, business.industry, lcsh:R, General Medicine, Enzyme replacement therapy, medicine.disease, Deoxyuridine, Phase II, Clinical trial, Enzyme replacement, Erythrocyte encapsulated thymidine phosphorylase, Mitochondrial neurogastrointestinal encephalomyopathy, MNGIE, Multiple dose, Orphan disease, Rare disease, mitochondrial disease, chemistry, Tolerability, Pharmacodynamics, enzyme replacement, multiple dose, Thymidine, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a4ff536c11921c213531b00509b40fTest
https://hdl.handle.net/11454/28713Test

المؤلفون: Max Hecht, Karin Kipper, Sema Kalkan Uçar, Emma L. Blakely, Natalicia J. Antunes, Andrew M. Schaefer, Michelle Levene, Bridget E. Bax, Lynette D. Fairbanks

المساهمون: Ege Üniversitesi

المصدر: Journal of Clinical Medicine; Volume 9; Issue 3; Pages: 788
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 9, Iss 3, p 788 (2020)

مصطلحات موضوعية: LC, limit of quantitation, urinalysis, lcsh:Medicine, Urine, thymidine, chemistry.chemical_compound, 0302 clinical medicine, MNGIE syndrome, 2’-deoxyuridine, Medicine, LC–MS/MS, method validation, mitochondrial neurogastrointestinal encephalomyopathy, erythrocyte encapsulated thymidine phosphorylase, EE-TP, mass spectrometry, analytic method, clinical article, 0303 health sciences, limit of detection, accuracy, 2'-deoxyuridine, General Medicine, protein stability, Bioanalysis, Formic acid, Mass spectrometry, Article, 03 medical and health sciences, proteomics, MS/MS, pharmacodynamics, controlled study, human, quality control, Thymidine phosphorylase, liquid chromatography-mass spectrometry, plasma, 030304 developmental biology, Chromatography, business.industry, lcsh:R, MS, calibration, Deoxyuridine, LC-MS, chemistry, protein analysis, Pharmacodynamics, enzyme replacement, erythrocyte, Thymidine, business, deoxyuridine derivative, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a5fb98be9cef84bd253ed9ce29cf2e9Test