Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Michelle Levene"'
Autor:
Michelle Levene, Dario Pacitti, Charlotte Gasson, Jamie Hall, Marcia Sellos-Moura, Bridget E. Bax
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 11, Iss , Pp 1-8 (2018)
Erythrocyte encapsulated thymidine phosphorylase is recombinant Escherichia coli thymidine phosphorylase encapsulated within human autologous erythrocytes and is under development as an enzyme replacement therapy for the ultra-rare inherited metaboli
Externí odkaz:
https://doaj.org/article/3f454fa28ac74ca78eedd5841cfa3eb9
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 7, p 3681 (2021)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disease for which there are currently no validated outcome measures for assessing therapeutic intervention efficacy. The aim of this study was to identify a plasma and/or
Externí odkaz:
https://doaj.org/article/5d888540b3224eb3b7fe3e703068c273
Publikováno v:
Frontiers in Genetics, Vol 9 (2018)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare metabolic autosomal recessive disease, caused by mutations in the nuclear gene TYMP which encodes the enzyme thymidine phosphorylase. The resulting enzyme deficiency leads
Externí odkaz:
https://doaj.org/article/c4bf83045c854b4e8d6dec00184aa009
Autor:
Karin Kipper, Max Hecht, Natalicia J. Antunes, Lynette D. Fairbanks, Michelle Levene, Sema Kalkan Uçar, Andrew Schaefer, Emma L. Blakely, Bridget E. Bax
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 3, p 788 (2020)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disorder caused by mutations in TYMP, leading to a deficiency in thymidine phosphorylase and a subsequent systemic accumulation of thymidine and 2’-deoxyuridine. Erythro
Externí odkaz:
https://doaj.org/article/8417c5e8ee244df4ad0679e039d9e77a
Autor:
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
Publikováno v:
Journal of Clinical Medicine, Vol 8, Iss 8, p 1096 (2019)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder which primarily affects the gastrointestinal and nervous systems. This disease is caused by mutations in the nuclear TYMP gene, which encodes for thymidi
Externí odkaz:
https://doaj.org/article/d2197bf7734a42459e58e14d8ce21de1
Autor:
Michelle Levene, Murray D. Bain, Nicholas F. Moran, Niranjanan Nirmalananthan, Joanna Poulton, Mauro Scarpelli, Massimiliano Filosto, Hanna Mandel, Andrew D. MacKinnon, Lynette Fairbanks, Dario Pacitti, Bridget E Bax
Publikováno v:
Journal of Clinical Medicine, Vol 8, Iss 4, p 457 (2019)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare autosomal recessive disorder of nucleoside metabolism that is caused by mutations in the nuclear thymidine phosphorylase gene (TYMP) gene, encoding for the enzyme thymidin
Externí odkaz:
https://doaj.org/article/cc460ec6c52647d1a2a3cb8329d7ee0a
Autor:
Jamie Hall, Marcia Sellos-Moura, Charlotte Gasson, Bridget E. Bax, Dario Pacitti, Michelle Levene
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 11, Iss, Pp 1-8 (2018)
Molecular Therapy. Methods & Clinical Development
Molecular Therapy-Methods & Clinical Development
Molecular Therapy. Methods & Clinical Development
Molecular Therapy-Methods & Clinical Development
Erythrocyte encapsulated thymidine phosphorylase is recombinant Escherichia coli thymidine phosphorylase encapsulated within human autologous erythrocytes and is under development as an enzyme replacement therapy for the ultra-rare inherited metaboli
Autor:
Max Hecht, Karin Kipper, Sema Kalkan Uçar, Emma L. Blakely, Natalicia J. Antunes, Andrew M. Schaefer, Michelle Levene, Bridget E. Bax, Lynette D. Fairbanks
Publikováno v:
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)
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 9, Iss 3, p 788 (2020)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disorder caused by mutations in TYMP, leading to a deficiency in thymidine phosphorylase and a subsequent systemic accumulation of thymidine and 2'-deoxyuridine. Erythrocy
Autor:
Andrew D. Mackinnon, Niranjanan Nirmalananthan, Mauro Scarpelli, Joanna Poulton, Nicholas Moran, Bridget E. Bax, Dario Pacitti, Murray D. Bain, Hanna Mandel, Lynette D. Fairbanks, Michelle Levene, Massimiliano Filosto
Publikováno v:
Journal of Clinical Medicine
Volume 8
Issue 4
Journal of Clinical Medicine, Vol 8, Iss 4, p 457 (2019)
Volume 8
Issue 4
Journal of Clinical Medicine, Vol 8, Iss 4, p 457 (2019)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare autosomal recessive disorder of nucleoside metabolism that is caused by mutations in the nuclear thymidine phosphorylase gene (TYMP) gene, encoding for the enzyme thymidin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b528e06a3e0b53191cd9d9da1f5174f
https://ora.ox.ac.uk/objects/uuid:a725ef35-9563-41a5-a018-b5025e56a4e7
https://ora.ox.ac.uk/objects/uuid:a725ef35-9563-41a5-a018-b5025e56a4e7
Autor:
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
Publikováno v:
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
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
WOS: 000483737700026
PubMed ID: 31344955
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder which primarily affects the gastrointestinal and nervous systems. This disease is caused by mutations
PubMed ID: 31344955
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder which primarily affects the gastrointestinal and nervous systems. This disease is caused by mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41a4ff536c11921c213531b00509b40f
https://hdl.handle.net/11454/28713
https://hdl.handle.net/11454/28713