Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Astrid Emilie Buch"'
Autor:
Astrid Emilie Buch, Olimpia Musumeci, Ralph Wigley, Mads Peter Godtfeldt Stemmerik, Anne‐Sofie Vibæk Eisum, Karen Lindhardt Madsen, Nicolai Preisler, David Hilton‐Jones, Ros Quinlivan, Antonio Toscano, John Vissing
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 60-66 (2021)
Abstract Aim To investigate the in vivo skeletal muscle metabolism in patients with β‐enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion. Methods Three patients with GSDXIII and 10 healthy controls performed a nonisch
Externí odkaz:
https://doaj.org/article/8313443dd69843c1baabfa14bfbebf34
Autor:
Patrick Soldath, Karen Lindhardt Madsen, Astrid Emilie Buch, Morten Duno, Flemming Wibrand, John Vissing
Publikováno v:
BMC Musculoskeletal Disorders, Vol 18, Iss 1, Pp 1-6 (2017)
Abstract Background Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored,
Externí odkaz:
https://doaj.org/article/5a9719090458429b8b7f2249b4ea03b0
Autor:
Fernando Scaglia, Bruce H. Cohen, Zarazuela Zolkipli-Cunningham, Perry B. Shieh, Jerry Vockley, Colin Meyer, Megan O'Grady, Angela Goldsberry, Amel Karaa, Amy Goldstein, Mary Kay Koenig, Karen Lindhardt Madsen, Astrid Emilie Buch, John Vissing, Ronald G. Haller, Marni J. Falk, Colleen C. Muraresku
Publikováno v:
Neurology
ObjectiveTo investigate the safety and efficacy of escalating doses of the semi-synthetic triterpenoid omaveloxolone in patients with mitochondrial myopathy.MethodsIn cohorts of 8–13, 53 participants were randomized double-blind to 12 weeks of trea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::353d8ed7c1b8440baf1ce664bf5d7434
https://doi.org/10.1212/wnl.0000000000008861
https://doi.org/10.1212/wnl.0000000000008861
Autor:
Mads Godtfeldt Stemmerik, Thomas Krag, Astrid Emilie Buch, Karen Lindhardt Madsen, John Vissing, Nanna S. Poulsen, Cristina Ruiz-Ruiz, Tessa Munkeboe Hornsyld, Freja Fornander, Anne-Sofie Vibæk Eisum
Publikováno v:
Mitochondrion. 50:35-41
Objective We investigated if Growth and Differentiation Factor 15 (GDF-15) can be used as a biomarker to distinguish patients with mitochondrial myopathy from patients with other myopathies. Methods Serum GDF-15 was measured in 28 patients with mitoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::945a1072fe3d3422c83de3dd06eff335
https://doi.org/10.1016/j.mito.2019.10.005
https://doi.org/10.1016/j.mito.2019.10.005
Autor:
Mads Godtfeldt Stemmerik, Astrid Emilie Buch, Nanna S. Poulsen, Karen Lindhardt Madsen, John Vissing, Allan M. Lund
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 104:3610-3613
Context Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD) affects oxidation of long-chain fatty acids (FAO) and is associated with risk of metabolic crises and episodic rhabdomyolysis. Case Description We present the cases of two
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3787d80b69a78f4fbbffd46fe617fb4c
https://doi.org/10.1210/jc.2019-00453
https://doi.org/10.1210/jc.2019-00453
Autor:
David Hilton-Jones, Anne-Sofie Vibæk Eisum, Karen Lindhardt Madsen, Mads Godtfeldt Stemmerik, Nicolai Preisler, Ralph Wigley, Antonio Toscano, Ros Quinlivan, John Vissing, Astrid Emilie Buch, Olimpia Musumeci
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 60-66 (2021)
Buch, A E, Musumeci, O, Wigley, R, Stemmerik, M P G, Eisum, A S V, Madsen, K L, Preisler, N, Hilton-Jones, D, Quinlivan, R, Toscano, A & Vissing, J 2021, ' Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII) ', JIMD Reports, vol. 61, no. 1, pp. 60-66 . https://doi.org/10.1002/jmd2.12232
JIMD Reports
Buch, A E, Musumeci, O, Wigley, R, Stemmerik, M P G, Eisum, A S V, Madsen, K L, Preisler, N, Hilton-Jones, D, Quinlivan, R, Toscano, A & Vissing, J 2021, ' Energy metabolism during exercise in patients with β-enolase deficiency (GSDXIII) ', JIMD Reports, vol. 61, no. 1, pp. 60-66 . https://doi.org/10.1002/jmd2.12232
JIMD Reports
Aim: To investigate the in vivo skeletal muscle metabolism in patients with β-enolase deficiency (GSDXIII) during exercise, and the effect of glucose infusion. Methods: Three patients with GSDXIII and 10 healthy controls performed a nonischemic hand
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c9da6c70835e6cbed15407be56634b6
http://hdl.handle.net/11570/3212054
http://hdl.handle.net/11570/3212054
Publikováno v:
Heje, K, Andersen, G, Buch, A, Andersen, H & Vissing, J 2019, ' High-intensity training in patients with spinal and bulbar muscular atrophy ', Journal of Neurology, vol. 266, no. 7, pp. 1693-1697 . https://doi.org/10.1007/s00415-019-09316-x
OBJECTIVE: Long duration, moderate-intensity exercise is not well tolerated in patients with spinal and bulbar muscular atrophy (SBMA). This study investigated whether patients with SBMA can benefit from high-intensity training (HIT).METHODS: Ten pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d75150e0365e13992291491a729f6eb4
https://pure.au.dk/portal/da/publications/highintensity-training-in-patients-with-spinal-and-bulbar-muscular-atrophy(24498c60-ffb0-4363-bfaf-4e90b00287e8).html
https://pure.au.dk/portal/da/publications/highintensity-training-in-patients-with-spinal-and-bulbar-muscular-atrophy(24498c60-ffb0-4363-bfaf-4e90b00287e8).html
Autor:
Astrid Emilie Buch, Morten Duno, Flemming Wibrand, Karen Lindhardt Madsen, John Vissing, Patrick Soldath
Publikováno v:
Soldath, P, Madsen, K L, Buch, A E, Duno, M, Wibrand, F & Vissing, J 2017, ' Pure exercise intolerance and ophthalmoplegia associated with the m.12,294G > A mutation in the MT-TL2 gene : a case report ', BMC Musculoskeletal Disorders, vol. 18, 419 . https://doi.org/10.1186/s12891-017-1781-0
BMC Musculoskeletal Disorders, Vol 18, Iss 1, Pp 1-6 (2017)
BMC Musculoskeletal Disorders
BMC Musculoskeletal Disorders, Vol 18, Iss 1, Pp 1-6 (2017)
BMC Musculoskeletal Disorders
BACKGROUND: Pure exercise intolerance associated with exclusive affection of skeletal muscle is a very rare phenotype of patients with mitochondrial myopathy. Moreover, the exercise intolerance in these rare patients is yet not well explored, as most
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d034a51282066dfbe12ad6a31550d28a
https://curis.ku.dk/portal/da/publications/pure-exercise-intolerance-and-ophthalmoplegia-associated-with-the-m12294ga-mutation-in-the-mttl2-gene(6d0d64be-7de2-409f-8bc5-f3bd3fa6d69e).html
https://curis.ku.dk/portal/da/publications/pure-exercise-intolerance-and-ophthalmoplegia-associated-with-the-m12294ga-mutation-in-the-mttl2-gene(6d0d64be-7de2-409f-8bc5-f3bd3fa6d69e).html
Autor:
Pascal Laforêt, Mads Godtfeldt Stemmerik, Astrid Emilie Buch, John Vissing, Karen Lindhardt Madsen
Publikováno v:
Neurology. 89(24)
Objective:To study fat and carbohydrate metabolism during exercise in patients with glycogenin-1 (GYG1) deficiency, and to study whether IV glucose supplementation can alleviate exercise intolerance in these patients.Methods:This is a case-control st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deff1ba1d6e3d2e8ac21ee5f16adf00c
https://pubmed.ncbi.nlm.nih.gov/29142088
https://pubmed.ncbi.nlm.nih.gov/29142088