Zobrazeno 1 - 10
of 294
pro vyhledávání: '"Gerard T Berry"'
Autor:
Ryan T Cleary, Hongyu Sun, Thanhthao Huynh, Simon M Manning, Yijun Li, Alexander Rotenberg, Delia M Talos, Kristopher T Kahle, Michele Jackson, Sanjay N Rakhade, Gerard T Berry, Frances E Jensen
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e57148 (2013)
Neonatal seizures can be refractory to conventional anticonvulsants, and this may in part be due to a developmental increase in expression of the neuronal Na(+)-K(+)-2 Cl(-) cotransporter, NKCC1, and consequent paradoxical excitatory actions of GABAA
Externí odkaz:
https://doaj.org/article/dfa78a3fa9124dd9bb49dc6e26f768c6
Autor:
Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsycholo
Externí odkaz:
https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8
Autor:
Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficiency from different cou
Externí odkaz:
https://doaj.org/article/7b30d0500cf94f298bf161b0d11d2fb6
Publikováno v:
JIMD Reports, Vol 63, Iss 2, Pp 131-136 (2022)
Abstract We report two patients with PMM2‐CDG who developed end stage renal disease (ESRD). Renal abnormalities of clinical significance have only been reported in about 6% of patients with PMM2‐CDG and have rarely been reported as the cause of d
Externí odkaz:
https://doaj.org/article/1974f0cef71a4833b40fbcebe670ebce
Autor:
Can Ficicioglu, Didem Demirbas, Britt Derks, G. Shashidhar Pai, David J. Timson, Maria Estela Rubio‐Gozalbo, Gerard T. Berry
Publikováno v:
JIMD Reports, Vol 59, Iss 1, Pp 104-109 (2021)
Abstract Galactokinase deficiency is an inborn error of carbohydrate metabolism due to a block in the formation of galactose‐1‐phosphate from galactose. Although the association of galactokinase deficiency with formation of cataracts is well esta
Externí odkaz:
https://doaj.org/article/b8646ce29b08414b95415f29487e97a8
Autor:
Gerard T. Berry, Elizabeth D. Blume, Ann Wessel, Tajinder Singh, Leah Hecht, Deborah Marsden, Inderneel Sahai, Scott Elisofon, Michael Ferguson, Heung Bae Kim, David J. Harris, Didem Demirbas, Mohammed Almuqbil, William L. Nyhan
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 3-8 (2020)
Abstract Cardiomyopathy is a frequent complication of propionic acidemia (PA). It is often fatal, and its occurrence is largely independent of classic metabolic treatment modalities. Liver transplantation (LT) is a treatment option for severe PA as t
Externí odkaz:
https://doaj.org/article/ab2641ca9a6d489a88e3074f2d6a20bb
Publikováno v:
Avery's Diseases of the Newborn ISBN: 9780323828239
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8178bcbb52b3ec2830eff2c6162fc5f5
https://doi.org/10.1016/b978-0-323-82823-9.00030-1
https://doi.org/10.1016/b978-0-323-82823-9.00030-1
Autor:
Steven H. Abman, Noorjahan Ali, Karel Allegaert, Jamie E. Anderson, Deidra A. Ansah, Bhawna Arya, David Askenazi, Susan W. Aucott, Stephen A. Back, Gerri R. Baer, H. Scott Baldwin, Jerasimos Ballas, Maneesh Batra, Cheryl Bayart, Gary A. Bellus, John T. Benjamin, Gerard T. Berry, Zeenia C. Billimoria, Gil Binenbaum, Matthew S. Blessing, Markus D. Boos, Brad Bosse, Maryse L. Bouchard, Heather A. Brandling-Bennett, Colleen Brown, Erin G. Brown, Katherine H. Campbell, Katie Carlberg, Brian S. Carter, Shilpi Chabra, Irene J. Chang, Edith Y. Cheng, Kai-wen Chiang, Robert D. Christensen, Terrence Chun, Ronald I. Clyman, Donna, Maria E. Cortezzo, C.M. Cotten, Sherry E. Courtney, Jonathan M. Davis, Alejandra G. de Alba Campomanes, Benjamin Dean, Ellen Dees, Sara B. De, Mauro, Scott C. Denne, Emöke Deschmann, Carolina Cecilia Di Blasi, Sara A. Di, Vall, Dan Doherty, David J. Durand, Nicolle Fernández Dyess, Eric C. Eichenwald, Kelsey B. Eitel, Rachel M. Engen, Kelly N. Evans, Diana L. Farmer, Emily Fay, Patricia Y. Fechner, Rachel Fleishman, Bobbi Fleiss, Joseph Flynn, Katherine T. Flynn-O’Brien, G. Kyle Fulton, Renata C. Gallagher, Estelle B. Gauda, W. Christopher Golden, Michelle M. Gontasz, Natasha González Estévez, Sidney M. Gospe, Pierre Gressens, Deepti Gupta, Sangeeta Hingorani, Ashley P. Hinson, Susan R. Hintz, W. Alan Hodson, Kara K. Hoppe, Alyssa Huang, Benjamin Huang, Kathy Huen, Katie A. Huff, Cristian Ionita, J. Craig Jackson, Jordan E. Jackson, Tom Jaksic, Patrick J. Javid, Julia Johnson, Cassandra D. Josephson, Emily S. Jungheim, Sandra E. Juul, Mohammad Nasser Kabbany, Heidi Karpen, Gregory Keefe, Jennifer C. Keene, Amaris M. Keiser, Roberta L. Keller, Thomas F. Kelly, Kate Khorsand, Grace Kim, John P. Kinsella, Allison S. Komorowski, Ildiko H. Koves, Joanne M. Lagatta, Satyan Lakshminrusimha, Christina Lam, John D. Lantos, Janessa B. Law, Su Yeon Lee, Ofer Levy, David B. Lewis, Philana Ling Lin, Scott A. Lorch, Tiffany L. Lucas, Akhil Maheshwari, Emin Maltepe, Erica Mandell, Winston M. Manimtim, Richard J. Martin, Dennis E. Mayock, Irene Mc, Aleer, Patrick McQuillen, Ann J. Melvin, Paul A. Merguerian, Lina Merjaneh, J. Lawrence Merritt, Valerie Mezger, Marian G. Michaels, Ulrike Mietzsch, Steven P. Miller, Thomas R. Moore, Karen F. Murray, Debika Nandi-Munshi, Niranjana Natarajan, Kathryn D. Ness, Josef Neu, Shahab Noori, Thomas Michael O’Shea, Julius T. Oatts, Nigel Paneth, Thomas A. Parker, Ravi Mangal Patel, Simran Patel, Anna A. Penn, Christian M. Pettker, Shabnam Peyvandi, Catherine Pihoker, Erin Plosa, Brenda Poindexter, Michael A. Posencheg, Mihai Puia-Dumitrescu, Vilmaris Quiñones Cardona, Samuel E. Rice-Townsend, Art Riddle, Elizabeth Robbins, Mark D. Rollins, Mark A. Rosen, Courtney K. Rowe, Inderneel Sahai, Sulagna C. Saitta, Parisa Salehi, Pablo J. Sanchez, Taylor Sawyer, Matthew A. Saxonhouse, Katherine M. Schroeder, David T. Selewski, T. Niroshi Senaratne, Istvan Seri, Emily E. Sharpe, Sarah E. Sheppard, Margarett Shnorhavorian, Robert Sidbury, La, Vone Simmons, Rebecca A. Simmons, Rachana Singh, Martha C. Sola-Visner, Lakshmi Srinivasan, Heidi J. Steflik, Robin H. Steinhorn, Caleb Stokes, Helen Stolp, Jennifer Sucre, Angela Sun, Dalal K. Taha, Jessica Tenney, Janet A. Thomas, George E. Tiller, Benjamin A. Torres, William E. Truog, Kirtikumar Upadhyay, Gregory C. Valentine, John N. van den Anker, Betty Vohr, Linda D. Wallen, Peter (Zhan Tao) Wang, Bradley A. Warady, Robert M. Ward, Jon F. Watchko, Elias Wehbi, Joern-Hendrik Weitkamp, David Werny, Klane K. White, K. Taylor Wild, Susan Wiley, Laurel Willig, George A. Woodward, Clyde J. Wright, Karyn Yonekawa, Elizabeth Yu, Elaine H. Zackai
Publikováno v:
Avery's Diseases of the Newborn ISBN: 9780323828239
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae2e380d47048c29830835b82b680e24
https://doi.org/10.1016/b978-0-323-82823-9.00101-x
https://doi.org/10.1016/b978-0-323-82823-9.00101-x
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100742- (2021)
Adult-onset non-cirrhotic hyperammonemia (NCH) is a rare, but often fatal condition that can result in both reversible and irreversible neurological defects. Here we present five cases of adult-onset non-cirrhotic hyperammonemia wherein brain magneti
Externí odkaz:
https://doaj.org/article/5c83f5436d1b4a7d872595a0b7c3928d
Autor:
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E Naomi Vos, Didem Demirbas, Kent Lai, Eileen P Treacy, Harvey L Levy, Louise E Wilkins-Haug, M Estela Rubio-Gozalbo, Gerard T Berry
Publikováno v:
Human Reproduction Update, 29(2), 246-258. Oxford University Press
BACKGROUND Hypergonadotropic hypogonadism is a burdensome complication of classic galactosemia (CG), an inborn error of galactose metabolism that invariably affects female patients. Since its recognition in 1979, data have become available regarding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b14071b42aecdf82f13075d179eabafb
https://doi.org/10.1093/humupd/dmac041
https://doi.org/10.1093/humupd/dmac041