Zobrazeno 1 - 10
of 260
pro vyhledávání: '"Andrea L Gropman"'
Autor:
Ileana Pacheco-Colón, Stuart D Washington, Courtney Sprouse, Guy Helman, Andrea L Gropman, John W VanMeter
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0129595 (2015)
Ornithine transcarbamylase deficiency (OTCD) is an X-chromosome linked urea cycle disorder (UCD) that causes hyperammonemic episodes leading to white matter injury and impairments in executive functioning, working memory, and motor planning. This stu
Externí odkaz:
https://doaj.org/article/a98343ea51074e1a88f198280549e3c7
Autor:
Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L. Konczal, Robert J. McCarter, Members of the Urea Cycle Disorders Consortium (UCDC), Andrea L. Gropman, Jirair K. Bedoyan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Ornithine transcarbamylase deficiency (OTCD) due to an X‐linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality. About 80% of females with OTCD remain apparently
Externí odkaz:
https://doaj.org/article/ff12e2767c3c4f77888b31bc65408744
Autor:
Alonso Zea Vera, Andrea L. Gropman
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
Refractory movement disorders are a common feature of inborn errors of metabolism (IEMs), significantly impacting quality of life and potentially leading to life-threatening complications such as status dystonicus. Surgical techniques, including deep
Externí odkaz:
https://doaj.org/article/54d2b25c47704f96b4b1b0cd76363e82
Publikováno v:
Diagnostics, Vol 12, Iss 4, p 861 (2022)
Inborn errors of metabolism (IEM) are a group of disorders due to functional defects in one or more metabolic pathways that can cause considerable morbidity and death if not diagnosed early. While individually rare, the estimated global prevalence of
Externí odkaz:
https://doaj.org/article/eceedb60556a4e168e351536438b5618
Autor:
Samango-Sprouse, Mary P. Hamzik, Andrea L. Gropman, Michaela R. Brooks, Sherida Powell, Teresa Sadeghin, Carole A.
Publikováno v:
Genes; Volume 14; Issue 7; Pages: 1402
47,XXY, also known as Klinefelter syndrome, is the most commonly occurring sex chromosomal aneuploidy (SCA). Hormonal replacement therapy (HRT) has been associated with improved neurodevelopmental capabilities in boys with 47,XXY, although studies in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::2bfbae84a7de43012a9a9dc9950aeb46
Autor:
Bigna K. Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L. Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M. Lasorsa, Christine Makowski, Cyril Mignot, Ruth O’Gorman Tuura, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes A. Mayr, Holger Prokisch, Saskia B. Wortmann
Publikováno v:
Nutrients; Volume 14; Issue 17; Pages: 3605
Nutrients, 14, 17
Nutrients, 14
Nutrients, 14, 17
Nutrients, 14
Contains fulltext : 283140.pdf (Publisher’s version ) (Open Access) The mitochondrial malate aspartate shuttle system (MAS) maintains the cytosolic NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such as glycolysis a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6dcf73469446f1ef7159da4c9615f98
Autor:
Sophia Q. Song, Teresa Sadeghin, Mary Pat Hamzik, Sherida Powell, Patricia Lasutchinkow, Andrea L. Gropman, Carole A. Samango-Sprouse, Michaela Reiko Brooks
Publikováno v:
Genetics in Medicine. 23:1017-1022
Purpose 47,XXY is associated with variable neurodevelopmental outcomes including deficits in expressive and receptive language development. Early hormonal treatment (EHT) has been associated with mitigating some deficiencies in boys with 47,XXY. This
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3ff7f1dbd537ec39e482ee80830b1ada
https://doi.org/10.1038/s41436-021-01098-w
https://doi.org/10.1038/s41436-021-01098-w
Autor:
Carole A. Samango-Sprouse, Mary P. Hamzik, Eliana Gropman, Michaela R. Brooks, Sherida Powell, Alexa M. Taylor, Teresa Sadeghin, Andrea L. Gropman
Publikováno v:
Genetics in Medicine. 25:100847
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5815dff0eac3ccc7a44eae9f17594253
https://doi.org/10.1016/j.gim.2023.100847
https://doi.org/10.1016/j.gim.2023.100847
Publikováno v:
Journal of Neurology
There have been considerations since the beginning of the Coronavirus pandemic that COVID-19 infection, like any other viral illness, can trigger neurological and metabolic decompensation in patients with mitochondrial diseases. At the time of writin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::227582a2b4333460c8cb3504345a9aec
https://doi.org/10.1007/s00415-021-10538-1
https://doi.org/10.1007/s00415-021-10538-1
Publikováno v:
Eur J Paediatr Neurol
We report a 5-year-old male with a PDHA1 variant who presented with alternating hemiplegia of childhood and later developed developmental regression, basal ganglia injury and episodic lactic acidosis. Enzyme assay in lymphocytes confirmed a diagnosis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::349a98933b15f8b8b15a7c2dffe7db95
https://doi.org/10.1016/j.ejpn.2021.01.006
https://doi.org/10.1016/j.ejpn.2021.01.006