Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Benjamin D. Goodlett"'
Autor:
Aoife M. Brennan, Larry Blankstein, Mark R. Charbonneau, Mary Castillo, John A. Phillips, Benjamin D. Goodlett, William S. Denney, Caroline B. Kurtz, David A. Wagner, Jerry Vockley, Marja K. Puurunen, Stephanie Sacharow, Vincent M. Isabella, Vasu V. Sethuraman, Richard Riese, Shawn Searle
Publikováno v:
Nature Metabolism. 3:1125-1132
Phenylketonuria (PKU) is a rare disease caused by biallelic mutations in the PAH gene that result in an inability to convert phenylalanine (Phe) to tyrosine, elevated blood Phe levels and severe neurological complications if untreated. Most patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1342478a5d170a500dcfa6ea1b086228
https://doi.org/10.1038/s42255-021-00430-7
https://doi.org/10.1038/s42255-021-00430-7
Autor:
Shawn E. Christ, Hayley E. Clocksin, Maia Zalik, Benjamin D. Goodlett, Stephanie J. Sacharow, Emily E. Abbene
Publikováno v:
Molecular Genetics and Metabolism. 139:107579
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f5e077932944c77e7ef436610aad1451
https://doi.org/10.1016/j.ymgme.2023.107579
https://doi.org/10.1016/j.ymgme.2023.107579
Autor:
Marja K. Puurunen, Jerry Vockley, Shawn L. Searle, Stephanie J. Sacharow, John A. Phillips, William S. Denney, Benjamin D. Goodlett, David A. Wagner, Larry Blankstein, Mary J. Castillo, Mark R. Charbonneau, Vincent M. Isabella, Vasu V. Sethuraman, Richard J. Riese, Caroline B. Kurtz, Aoife M. Brennan
Publikováno v:
Nature Metabolism. 4:1214-1214
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::05de650ff6c47d4b608240b7940f8363
https://doi.org/10.1038/s42255-022-00635-4
https://doi.org/10.1038/s42255-022-00635-4
Autor:
Marja K, Puurunen, Jerry, Vockley, Shawn L, Searle, Stephanie J, Sacharow, John A, Phillips, William S, Denney, Benjamin D, Goodlett, David A, Wagner, Larry, Blankstein, Mary J, Castillo, Mark R, Charbonneau, Vincent M, Isabella, Vasu V, Sethuraman, Richard J, Riese, Caroline B, Kurtz, Aoife M, Brennan
Publikováno v:
Nature metabolism. 3(8)
Phenylketonuria (PKU) is a rare disease caused by biallelic mutations in the PAH gene that result in an inability to convert phenylalanine (Phe) to tyrosine, elevated blood Phe levels and severe neurological complications if untreated. Most patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f82627a32b8de2935eacdf630d65bebf
https://pubmed.ncbi.nlm.nih.gov/35974248
https://pubmed.ncbi.nlm.nih.gov/35974248
Autor:
Kristina Fredriksen, Charles B. Berde, Jai Vaze, Susan E. Waisbren, Lauren E. Black, Christelle Moufawad El Achkar, Julie Douville, Bobbie L. Riley, Jaejoon Choi, Alan H. Beggs, Pankaj B. Agrawal, Iva Stojkovska, Stephen Chu, Nandkishore R. Belur, Austin Larson, David K. Urion, Renata L. DiDonato, Richard O. Snyder, Emily Berry, Eunjung Lee, Al Patterson, Kelly A. Pflock, Brenda Barton, Sara F. Goldkind, Jinkuk Kim, Laura Cornelissen, Timothy W. Yu, P. Ellen Grant, Mary K. Pendergast, Chunguang Hu, Benjamin D. Goodlett, Lucinda Williams, Aubrie Soucy, Kimberly Tyndall, Myriam Armant, Erika F. Augustine, Olaf Bodamer, Ashley Kuniholm, Luis M. Pereira, Chantal Reed, Alessandra Biffi, Kira A. Dies, Amy Pasternak, Casie A. Genetti, Annapurna Poduri, Alla V. Tsytsykova, Joseph R. Mazzulli, Peter J. Park
Publikováno v:
N Engl J Med
Genome sequencing is often pivotal in the diagnosis of rare diseases, but many of these conditions lack specific treatments. We describe how molecular diagnosis of a rare, fatal neurodegenerative condition led to the rational design, testing, and man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19381104d0ffe14b9de184a4638dda48
https://doi.org/10.1530/ey.17.14.8
https://doi.org/10.1530/ey.17.14.8
Autor:
Cassandra Papaleo, Benjamin D. Goodlett, Krista Viau, Ann Wessel, Stephanie Sacharow, Harvey L. Levy, Kyla Almeida, Amy Kritzer, Leslie Martell
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100603-(2020)
Molecular Genetics and Metabolism Reports, Vol 24, Iss, Pp 100603-(2020)
We present Boston Children's Hospital's clinic model for pegvaliase therapy in adults with phenylketonuria (PKU) and clinical outcomes in 46 patients over the first 1.5 years of commercial therapy. Approximately 70% (18/26) of patients starting pegva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fb097b0f26c748b6a8ae038a8b61605
https://doi.org/10.1016/j.ymgmr.2020.100603
https://doi.org/10.1016/j.ymgmr.2020.100603
Autor:
Dawn K. Wilson, Abe Wandersman, Melinda Forthofer, Hannah G. Lawman, Heather Kitzman-Ulrich, Barney Gadson, Sarah F. Griffin, Sandra M. Coulon, Brent M. Egan, M. Lee Van Horn, Benjamin D. Goodlett, Sara M. St. George, Nevelyn N. Trumpeter
Publikováno v:
Contemporary Clinical Trials. 31:624-633
Ethnic minorities and lower-income adults have among the highest rates of obesity and lowest levels of regular physical activity (PA). The Positive Action for Today's Health (PATH) trial compares three communities that are randomly assigned to differ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59161ec3ad50791932cdbb08b0dc2a8f
https://doi.org/10.1016/j.cct.2010.08.009
https://doi.org/10.1016/j.cct.2010.08.009
Publikováno v:
The Routledge International Handbook of Biosocial Criminology ISBN: 9781315858449
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::365e28d6fb2d31050c80adbd71d9504f
https://doi.org/10.4324/9781315858449-28
https://doi.org/10.4324/9781315858449-28
Autor:
Kiren Chaudhry, Alexis Williams, Rebecca Wheeler, Caitlin M. McLear, Laura M. Crespo, Christopher J. Trentacosta, Joanne P. Smith-Darden, Benjamin D. Goodlett
Publikováno v:
Merrill Palmer Q (Wayne State Univ Press)
Maternal depressive symptoms predict negative child behaviors, including internalizing problems. However, protective factors, such as positive emotionality and positive parenting behaviors, may play an important a role in attenuating associations bet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::620814212bd99327a65fdf9d7ad59a1b
https://doi.org/10.13110/merrpalmquar1982.63.1.0077
https://doi.org/10.13110/merrpalmquar1982.63.1.0077
Autor:
Felicity W. K. Harper, Benjamin D. Goodlett, Jeffrey W. Taub, Christopher J. Trentacosta, Sean Phipps, Terrance L. Albrecht, Louis A. Penner
Publikováno v:
Journal of pediatric psychology. 39(4)
Objective The developmental psychology literature shows that children with higher levels of effortful control (EC) and ego-resilience (ER) display greater social competence and better emotional adjustment. This study examined whether these dispositio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9c5845e5ab24a92b0cbe31b6f94f2d4
https://pubmed.ncbi.nlm.nih.gov/24443742
https://pubmed.ncbi.nlm.nih.gov/24443742