Zobrazeno 1 - 10
of 64
pro vyhledávání: '"M. Engelstad"'
Autor:
John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales, Michio Hirano
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Mitochondrial diseases often require multiple years and clinicians to diagnose. We lack knowledge of the stages of this diagnostic odyssey, and factors that affect it. Our goals are to report the results of the 2018 Odyssey2 (OD2)
Externí odkaz:
https://doaj.org/article/0ab8185a7bbc4e9d90ca43b00e093ccb
Autor:
John L. P. Thompson, Amel Karaa, Hung Pham, Philip Yeske, Jeffrey Krischer, Yi Xiao, Yuelin Long, Amanda Kramer, David Dimmock, Amy Holbert, Cliff Gorski, Kristin M. Engelstad, Richard Buchsbaum, Xiomara Q. Rosales, Michio Hirano
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/447b83e0075d4a2d9ba0757470bbe7d7
Autor:
Maoxue Tang, Guangping Gao, Carlos B. Rueda, Hang Yu, David N. Thibodeaux, Tomoyuki Awano, Kristin M. Engelstad, Maria-Jose Sanchez-Quintero, Hong Yang, Fanghua Li, Huapeng Li, Qin Su, Kara E. Shetler, Lynne Jones, Ryan Seo, Jonathan McConathy, Elizabeth M. Hillman, Jeffrey L. Noebels, Darryl C. De Vivo, Umrao R. Monani
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Glut1-deficiency syndrome is a severe neurodevelopmental disorder characterized by low brain glucose and epileptic seizures. Tanget al. show that in model mice, low Glut1 leads to defects of the brain vasculature, and that AAV9-based gene therapy at
Externí odkaz:
https://doaj.org/article/cfe083483d664856ac5c4ced1381ccce
Akademický článek
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Akademický článek
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Publikováno v:
Journal of the Endocrine Society. 5:A698-A699
Background: Glut1 deficiency syndrome (Glut1DS) is caused by mutations in SLC2A1 on chromosome 1p34.2, which impairs transmembrane glucose transport across the blood brain barrier resulting in hypoglycorrhachia and decreased glucose availability for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::adc153e3282aaef8afa280ff620046c4
https://doi.org/10.1210/jendso/bvab048.1422
https://doi.org/10.1210/jendso/bvab048.1422
Carrying Them with Us: Living through Pregnancy and Infant Loss is a reflection on what pastors David Engelstad and Catherine Malotky have learned since the day in 1984 when their eight-week-old daughter Erin died of Sudden Infant Death Syndrome.Draw
Akademický článek
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Autor:
Amanda W, Pong, Brianna R, Geary, Kris M, Engelstad, Ashwini, Natarajan, Hong, Yang, Darryl C, De Vivo
Publikováno v:
Epilepsia. 53(9)
Glut 1 deficiency syndrome (DS) is defined by hypoglycorrhachia with normoglycemia, acquired microcephaly, episodic movements, and epilepsy refractory to standard antiepileptic drugs (AEDs). Gold standard treatment is the ketogenic diet (KD), which p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8e6b0ab3692c2e05bb32e1d90d3fa4da
https://pubmed.ncbi.nlm.nih.gov/22812641
https://pubmed.ncbi.nlm.nih.gov/22812641
To assess the spectrum of movement disorders, we reviewed video recordings and charts of 57 patients with Glut-1 deficiency. Eighty-nine percent of patients with Glut-1 deficiency syndrome had a disturbance of gait. The most frequent gait abnormaliti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::479f675c8f042333f515693cb1351eae
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2999503
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2999503