Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Laura Konczal"'
Autor:
Nicole Miller, Heraclio Gutierrez, Omid Japalaghi, Laura Konczal, Deborah Marsden, Markey McNutt, Ana Morales, Marcela Vela-Amieva, Vanessa Rangel Miller
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100907- (2024)
Externí odkaz:
https://doaj.org/article/bba20e232a044c45aaad5ee812b8db8a
Autor:
Laura Konczal, Marie Luz Couce, Mireia del Toro, Janneke Langendonk, Andreas Schulze, Joshua Baker, T. Andrew Burrow, Gerald S. Lipshutz, Nicola Longo, Janet Thomas, J. Lawrence Merritt
Publikováno v:
Molecular Genetics and Metabolism. 138:107437
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::348bea1ca29109608d06848166bdb61d
https://doi.org/10.1016/j.ymgme.2023.107437
https://doi.org/10.1016/j.ymgme.2023.107437
Autor:
Jennifer Abuzzahab, Moris Angulo, Lynne Bird, Merlin Butler, Neil Cowen, Evelien Gevers, Anthony Goldstone, Patricia Hirano, Laura Konczal, Melissa Lah, Verghese Mathew, Jorge Mejia Corletto, Jennifer Miller, Kathryn Obrynba, Parisa Salehi, M Guftar Shaikh, Ashley Shoemaker, David Stevenson, David Viskochil, John Wilding, Michael Woloschak, Jack Yanovski, Eric Felner
Publikováno v:
Journal of the Endocrine Society. 6:A15-A16
Background Prader-Willi syndrome (PWS) is a rare genetic neurodevelopmental condition, characterized by hyperphagia, obesity, hormone deficiencies and behavioral/psychological manifestations. DCCR is under investigation as a treatment for hyperphagia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::652486a30fad58c96be72f06bf539e09
https://doi.org/10.1210/jendso/bvac150.032
https://doi.org/10.1210/jendso/bvac150.032
Autor:
Michael Woloschak, Jennifer Miller, Eric Felner, Lynne Bird, Moris Angulo, Jorge Mejia-Corletto, Evelien Gevers, Ashley Shoemaker, Jack Yanovski, Merlin Butler, Parisa Salehi, David Stevenson, John Wilding, Jennifer Abuzzahab, Laura Konczal, M Guftar Shaikh, David Viskochil, Melissa Lah, Verghese Mathew, Kristen Yen, Anish Bhatnagar, Kathryn Obrynba
Publikováno v:
Journal of the Endocrine Society. 6:A35-A36
Background Prader-Willi syndrome (PWS), a rare genetic neurobehavioral-metabolic condition, is characterized by hyperphagia, accumulation of excess fat, hypotonia, and behavioral/psychological complications. There are no currently approved medication
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c116c85063c8268709e6ef090e547a5f
https://doi.org/10.1210/jendso/bvac150.074
https://doi.org/10.1210/jendso/bvac150.074
Autor:
Evelien Gevers, Jennifer Miller, Merlin Butler, Nicola Bridges, Tony Goldstone, Kathryn Obrynba, Parisa Salehi, Eric Felner, Lynne Bird, Ashley Shoemaker, Laura Konczal, Melissa Lah, Jack Yanovski, Moris Angulo, Jorge Mejia-Corletto, David Stevenson, John Wilding, Jennifer Abuzzahab, Guftar Shaikh, David Viskochil, Verghese Mathew, Kristen Yen, Michael Woloschak, Anish Bhatnagar
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00ca0b58a14980c94112f4e54b4731d2
https://doi.org/10.1530/endoabs.81.ep360
https://doi.org/10.1530/endoabs.81.ep360
Autor:
Evelien Gevers, Theresa Strong, Jennifer Miller, Eric Felner, Tony Goldstone, Nicola Bridges, Jack Yanovski, Lynne Bird, Merlin Butler, Kathryn Obrynba, Melissa Lah, Ashley Shoemaker, Jorge Mejia-Corletto, David Stevenson, John Wilding, Virginia Kimonis, Jennifer Abuzzahab, Laura Konczal, Verghese Mathew, Neil Cowen, Michael Woloschak, Anish Bhatnagar
Publikováno v:
Endocrine Abstracts.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2edacfffc67108c541be813f2089a04f
https://doi.org/10.1530/endoabs.81.p77
https://doi.org/10.1530/endoabs.81.p77
Autor:
Richard Rowell, Laura Konczal, Susan E. Waisbren, Nicola Longo, Shawn E. McCandless, Joshua Lilienstein, Annette Feigenbaum, Kaleigh B. Whitehall, Barbara K. Burton, Amarilis Sanchez-Valle
Publikováno v:
Molecular genetics and metabolism
Sapropterin dihydrochloride has been approved for the treatment of hyperphenylalaninemia in infants and young children with phenylketonuria (PKU). Sapropterin can reduce phenylalanine (Phe) levels in tetrahydrobiopterin (BH4)-responsive patients, pot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::419b244f99a33581b1f4916e702bac3e
https://pubmed.ncbi.nlm.nih.gov/33485801
https://pubmed.ncbi.nlm.nih.gov/33485801
Autor:
Katherine J. Dempsey, Laura Konczal, William B. Hannah, Shawn E. McCandless, Keith B. Armitage, Gregory Nizialek
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100825-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Among etiologies of hyperammonemic emergencies, infection must be considered in certain clinical contexts, particularly among immunocompromised individuals. Although Cryptococcus neoformans is known to be urease-producing, to our knowledge it has not
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04510132ff8ea185740ee0e51700575b
https://doi.org/10.1016/j.ymgmr.2021.100825
https://doi.org/10.1016/j.ymgmr.2021.100825
Autor:
Lori-Anne Schillaci, Shawn E. McCandless, Katherine J. Dempsey, Laura Konczal, Anthony Wynshaw-Boris, Jirair K. Bedoyan, William B. Hannah, Michael Zacharias
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Although individuals of Amish descent with propionic acidemia (PA) are generally thought to have a milder disease phenotype, we now have a better understanding of the natural history of PA in this population. Here we describe two Amish patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29060606aab39c97beddc6350d368b04
http://europepmc.org/articles/PMC6895572
http://europepmc.org/articles/PMC6895572
Autor:
Mark Yudkoff, Gregory M. Enns, Louis Scavo, Robert McCarter, Penny Glass, George A. Diaz, Nicholas Ah Mew, Katie Rice, James D. Weisfeld-Adams, Gerard T. Berry, Can Ficicioglu, Uta Lichter-Konecki, Renata C. Gallagher, Curtis R. Coughlin, Mendel Tuchman, Henry Choi, Laura Konczal, Derek Wong, Catherine W. Gillespie, Shawn E. McCandless, Avital Cnaan
Publikováno v:
Translational Science of Rare Diseases
Organic acidemias and urea cycle disorders are ultra-rare inborn errors of metabolism characterized by episodic acute decompensation, often associated with hyperammonemia, resulting in brain edema and encephalopathy. Retrospective reports and transla
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ea8b8815c2b18a0bb78a1770a07291
https://pubmed.ncbi.nlm.nih.gov/30613471
https://pubmed.ncbi.nlm.nih.gov/30613471