Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Keturah Beiler"'
Autor:
Kevin A. Strauss, Vincent J. Carson, Emilienne Bolettieri, Mariah Everett, Ashton Bollinger, Lauren E. Bowser, Keturah Beiler, Millie Young, Simon Edvardson, Nitay Fraenkel, Adele D'Amico, Enrico Bertini, Lokesh Lingappa, Devyani Chowdhury, Linda P. Lowes, Megan Iammarino, Lindsay N. Alfano, Karlla W. Brigatti
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 11, Pp 1972-1984 (2023)
ABSTRACT Objective We created WiTNNess as a hybrid prospective/cross‐sectional observational study to simulate a clinical trial for infantile‐onset TNNT1 myopathy. Our aims were to identify populations for future trial enrollment, rehearse outcom
Externí odkaz:
https://doaj.org/article/aed2e23aa754450b8426dda69cb75b30
Autor:
Stephanie Chopko, Millie Young, Vincent J Carson, George V. Mazariegos, Jennifer Hailey, Cora M. Taylor, Barbara Haas-Givler, Karlla W. Brigatti, KaLynn K. Loeven, Erik G. Puffenberger, Adam D. Heaps, Keturah Beiler, Ashlin S. Rodrigues, Kyle Soltys, Emilie R. Muelly, Kevin A. Strauss, Lauren E. Bowser, Zachary Radcliff, Christine Hendrickson, Katie B. Williams, Diana A. Shellmer, D. Holmes Morton, Donna L. Robinson
Publikováno v:
Molecular Genetics and Metabolism. 129:193-206
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple syrup urine disease (MSUD)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86af95984cf0f1393318580bd7a2c565
https://doi.org/10.1016/j.ymgme.2020.01.006
https://doi.org/10.1016/j.ymgme.2020.01.006
Autor:
D. Holmes Morton, Jennifer Hailey, Christine Hendrickson, Erik G. Puffenberger, Katie B. Williams, Millie Young, Donna L. Robinson, Kevin A. Strauss, Freeman Miller, Karlla W. Brigatti, Laura Poskitt, Stephanie Chopko, Vincent J Carson, Keturah Beiler, Lauren E. Bowser, Cora M. Taylor, Barbara Haas-Givler
Publikováno v:
Molecular genetics and metabolism. 131(3)
Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of GCDH. Without treatment, GA1 causes striatal degeneration in80% of affected children before two years of age. We analyzed clinical,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f94860df6ebe7d939bb5bc4e9058ff1
https://pubmed.ncbi.nlm.nih.gov/33069577
https://pubmed.ncbi.nlm.nih.gov/33069577