Zobrazeno 1 - 10
of 113
pro vyhledávání: '"Kristin Engelstad"'
Autor:
Naeimeh Tayebi, Brian Leon‐Ricardo, Kevin McCall, Elvisa Mehinovic, Kristin Engelstad, Vincent Huynh, Tychele N. Turner, Judy Weisenberg, Liu L. Thio, Paul Hruz, Robin S. B. Williams, Darryl C. De Vivo, Vincent Petit, Gabe Haller, Christina A. Gurnett
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 787-801 (2023)
Abstract Objective The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. Methods The functional impact of 40 SNVs in
Externí odkaz:
https://doaj.org/article/8965eaa1967a46efa6f51cdbea956310
Autor:
Emily B. Leaffer, Darryl C. De Vivo, Kristin Engelstad, Robert H. Fryer, Yian Gu, Dikoma C. Shungu, Michio Hirano, Salvatore DiMauro, Veronica J. Hinton
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 6, Pp 841-852 (2022)
Abstract Objective To examine the correlation between verbal and visual memory function and correlation with brain metabolites (lactate and N‐Acetylaspartate, NAA) in individuals with mitochondrial encephalomyopathy, lactic acidosis, and stroke‐l
Externí odkaz:
https://doaj.org/article/45fd3d8c31dd4f0ea64be0a9714354ca
Autor:
Atif Towheed, Christian L. Hietanen, Vasudeva G. Kamath, Larry N. Singh, Angela Ho, Kristin Engelstad, Kayla Cornett, Jacqueline Montes, Darryl De Vivo
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2199-2204 (2021)
Abstract Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurob
Externí odkaz:
https://doaj.org/article/76ec6d54b97e41acb9c8cb990d4765fa
Autor:
Kristin Engelstad, Rachel Salazar, Dorcas Koenigsberger, Erin Stackowtiz, Susan Brodlie, Melanie Brandabur, Darryl C. De Vivo
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 5, Pp 1151-1157 (2021)
Abstract We explored the benefits of triheptanoin as a treatment for Short Chain Enoyl Co‐A Hydratase (SCEH) deficiency. One child with early onset, severe SCEH Deficiency was treated with triheptanoin, an odd chain oil with anapleurotic properties
Externí odkaz:
https://doaj.org/article/a9f0efde463a4e419916f114b4df033b
Autor:
Joerg Klepper, Cigdem Akman, Marisa Armeno, Stéphane Auvin, Mackenzie Cervenka, Helen J. Cross, Valentina De Giorgis, Adela Della Marina, Kristin Engelstad, Nicole Heussinger, Eric H. Kossoff, Wilhelmina G. Leen, Baerbel Leiendecker, Umrao R. Monani, Hirokazu Oguni, Elizabeth Neal, Juan M. Pascual, Toni S. Pearson, Roser Pons, Ingrid E. Scheffer, Pierangelo Veggiotti, Michél Willemsen, Sameer M. Zuberi, Darryl C. De Vivo
Publikováno v:
Epilepsia Open, Vol 5, Iss 3, Pp 354-365 (2020)
Abstract Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion across tissue barriers is facilitated by a family of proteins including glucose trans
Externí odkaz:
https://doaj.org/article/2fa0007690e94933a2416d2145d27364
Autor:
Haakonsen, Kristin Engelstad
Publikováno v:
Haakonsen, Kristin Engelstad. Sammenhenger mellom foreldres bruk av destruktive konfliktstrategier og yngre barns mistilpasning. Master thesis, University of Oslo, 2021
Externí odkaz:
http://hdl.handle.net/10852/90134
https://www.duo.uio.no/bitstream/handle/10852/90134/1/PSYC6100_2021_Kristin_Amanda.pdf
https://www.duo.uio.no/bitstream/handle/10852/90134/1/PSYC6100_2021_Kristin_Amanda.pdf
Autor:
Abigail Sage‐Schwaede, Kristin Engelstad, Rachel Salazar, Angela Curcio, Alexander Khandji, James H. Garvin Jr, Darryl C. De Vivo
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 9, Pp 1877-1881 (2019)
Abstract Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause severe morbidity and neither have effective treatment. Inhibiti
Externí odkaz:
https://doaj.org/article/853e75a373114360af9361de5cca6d70
Autor:
Emily B. Leaffer, Darryl C. De Vivo, Kristin Engelstad, Robert H. Fryer, Yian Gu, Dikoma C. Shungu, Michio Hirano, Salvatore DiMauro, Veronica J. Hinton
Publikováno v:
Annals of Clinical and Translational Neurology. 9:841-852
To examine the correlation between verbal and visual memory function and correlation with brain metabolites (lactate and N-Acetylaspartate, NAA) in individuals with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).Me
Autor:
Larry N. Singh, Atif Towheed, Jacqueline Montes, Darryl C. De Vivo, Angela Ho, Christian L. Hietanen, Vasudeva G. Kamath, Kristin Engelstad, Kayla M.D. Cornett
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 11, Pp 2199-2204 (2021)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Two siblings presented similarly with congenital hypotonia, lactic acidosis, and failure to thrive. Later in childhood, the brother developed cystinuria and nephrolithiasis whereas the older sister suffered from cystinuria and chronic neurobehavioral
Autor:
Bo Hoon Lee, Stella Deng, Claudia A. Chiriboga, Denise M. Kay, Obehioya Irumudomon, Emma Laureta, Leslie Delfiner, Simona O. Treidler, Yaacov Anziska, Ai Sakonju, Chelsea Kois, Osman Farooq, Kristin Engelstad, Alexandra Laurenzano, Katherine Hogan, Michele Caggana, Carlos A. Saavedra-Matiz, Colleen F. Stevens, Emma Ciafaloni
Publikováno v:
Neurology
Background and ObjectivesSpinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel in July 2018 largely on the basis of the availability and efficacy of newly approved disease-modifying therapies. New York State (NYS) started