المؤلفون: Mary Kay Koenig, Sam Nick Russo, Kim L. McBride, Hans Tomas Bjornsson, Brynja Bjork Gunnarsdottir, Amy Goldstein, Scott A. Falk

المصدر: JIMD Reports, Vol 64, Iss 1, Pp 65-70 (2023)

مصطلحات موضوعية: Barth syndrome, Cardiolipin, Elamipretide, MEGDEL, mitochondrial disease, Sengers syndrome, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/2a1b65d79cfc44da9295673fe3a0a559Test

المؤلفون: Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno

المصدر: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-6 (2022)

مصطلحات موضوعية: Sengers syndrome, AGK gene, Mild phenotype, Long term follow-up, Case report, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1824-7288Test

الوصول الحر: https://doaj.org/article/0d3f19fa84244821be31d2f1fda0bffeTest

المؤلفون: Koenig, Mary Kay, Russo, Sam Nick, McBride, Kim L., Björnsson, Hans Tómas, Gunnarsdottir, Brynja Bjork, Goldstein, Amy, Falk, Scott A.

المساهمون: Faculty of Medicine, Other departments, Clinical Laboratory Services, Diagnostics and Blood Bank

مصطلحات موضوعية: Lífefna- og sameindalíffræði, Barth syndrome, Cardiolipin, Elamipretide, MEGDEL, mitochondrial disease, Sengers syndrome, Internal Medicine, Endocrinology, Diabetes and Metabolism, Biochemistry, Genetics and Molecular Biology (miscellaneous)

وصف الملف: 65-70

العلاقة: JIMD Reports; 64(1); http://www.scopus.com/inward/record.url?scp=85146126469&partnerID=8YFLogxKTest; Koenig , M K , Russo , S N , McBride , K L , Björnsson , H T , Gunnarsdottir , B B , Goldstein , A & Falk , S A 2023 , ' Use of Elamipretide in patients assigned treatment in the compassionate use program : Case series in pediatric patients with rare orphan diseases ' , JIMD Reports , vol. 64 , no. 1 , pp. 65-70 . https://doi.org/10.1002/jmd2.12335Test; e5827913-806c-45fe-b88d-fa0c18ef55b1; 85146126469; unpaywall: 10.1002/jmd2.12335; https://hdl.handle.net/20.500.11815/4066Test

الإتاحة: https://doi.org/20.500.11815/4066Test
https://doi.org/10.1002/jmd2.12335Test
https://hdl.handle.net/20.500.11815/4066Test

المؤلفون: Binxiang Chu, Zhenghua Hong, Xiaohe Zheng

المصدر: Frontiers in Cell and Developmental Biology, Vol 9 (2021)

مصطلحات موضوعية: acylglycerol kinase, mitochondria, Sengers syndrome, oncogenesis, metabolism, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fcell.2021.659158/fullTest; https://doaj.org/toc/2296-634XTest

الوصول الحر: https://doaj.org/article/64cb083392d6486ca7f0118cfbf16f7dTest

المؤلفون: Benzhen Wang, Zhanhui Du, Guangsong Shan, Chuanzhu Yan, Victor Wei Zhang, Zipu Li

المصدر: Frontiers in Pediatrics, Vol 9 (2021)

مصطلحات موضوعية: Sengers syndrome, acylglycerol kinase, mutation, genotype, cardiomyopathy, hypertrophic, Pediatrics, RJ1-570

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fped.2021.639687/fullTest; https://doaj.org/toc/2296-2360Test

الوصول الحر: https://doaj.org/article/406be1d119b943bb8e16827c24ac37f0Test

المؤلفون: Bibhuti B. Das, MD, Lazaro E. Hernandez, MD, Parul Jayakar, MD, Kathryn C. Chatfield, MD, PhD, Maryanne Chrisant, MD

المصدر: JACC: Case Reports, Vol 1, Iss 1, Pp 11-16 (2019)

مصطلحات موضوعية: acylglycerol kinase, AGK, mitochondrial cardiomyopathy, Sengers syndrome, Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2666084919300087Test; https://doaj.org/toc/2666-0849Test

الوصول الحر: https://doaj.org/article/c73865d6b54347b7a723f003b22351a3Test

المؤلفون: Sofia Barbosa-Gouveia, Maria E. Vázquez-Mosquera, Emiliano Gonzalez-Vioque, Álvaro Hermida-Ameijeiras, Laura L. Valverde, Judith Armstrong-Moron, Maria del Carmen Fons-Estupiña, Liesbeth T. Wintjes, Antonia Kappen, Richard J. Rodenburg, Maria L. Couce

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 24; Pages: 13484

مصطلحات موضوعية: acylglycerol kinase, mitochondrial dysfunction, mitochondrial ATP generation, oxidative phosphorylation machinery, Sengers syndrome

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Biochemistry; https://dx.doi.org/10.3390/ijms222413484Test

الإتاحة: https://doi.org/10.3390/ijms222413484Test

المؤلفون: Christina Wasmus, Jan Dudek

المصدر: Life; Volume 10; Issue 11; Pages: 277

مصطلحات موضوعية: cardiolipin, mitochondria, Barth syndrome, Sengers syndrome, respiratory chain, Dilated Cardiomyopathy with Ataxia, cardiomyopathy

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Physiology and Pathology; https://dx.doi.org/10.3390/life10110277Test

الإتاحة: https://doi.org/10.3390/life10110277Test

المؤلفون: Kang, Yilin, Stroud, David A., Baker, Michael J., De Souza, David P., Frazier, Ann E., Liem, Michael, Tull, Dedreia, Mathivanan, Suresh, McConville, Malcolm J., Thorburn, David R., Ryan, Michael T., Stojanovski, Diana

المصدر: Kang , Y , Stroud , D A , Baker , M J , De Souza , D P , Frazier , A E , Liem , M , Tull , D , Mathivanan , S , McConville , M J , Thorburn , D R , Ryan , M T & Stojanovski , D 2017 , ' Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex ' , Molecular Cell , vol. 67 , no. 3 , pp. 457-470 . https://doi.org/10.1016/j.molcel.2017.06.014Test

مصطلحات موضوعية: acylglycerol kinase, AGK, lipid metabolism, mitochondria, mitochondrial carrier proteins, protein transport, Sengers syndrome, TCA cycle, TIM22 complex

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1016/j.molcel.2017.06.014Test
https://research.monash.edu/en/publications/3065ae9a-53f6-4e5d-96e3-580924a77dadTest
https://researchmgt.monash.edu/ws/files/310919825/213513462_oa.pdfTest
http://www.scopus.com/inward/record.url?scp=85023597248&partnerID=8YFLogxKTest

المؤلفون: Panicucci C., Schiaffino M. C., Nesti C., Derchi M., Trocchio G., Severino M., Stagnaro N., Priolo E., Zara F., Santorelli F. M., Bruno C.

المساهمون: Panicucci, C., Schiaffino, M. C., Nesti, C., Derchi, M., Trocchio, G., Severino, M., Stagnaro, N., Priolo, E., Zara, F., Santorelli, F. M., Bruno, C.

مصطلحات موضوعية: AGK gene, Case report, Long term follow-up, Mild phenotype, Sengers syndrome

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000869271300003; volume:48; firstpage:180; lastpage:185; numberofpages:6; journal:THE ITALIAN JOURNAL OF PEDIATRICS; https://hdl.handle.net/11567/1143155Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85139877092

الإتاحة: https://doi.org/10.1186/s13052-022-01370-yTest
https://hdl.handle.net/11567/1143155Test