Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Melanie Goff"'
Autor:
Quinton S. Katler, Karolina M. Stepien, Nathan Paull, Sneh Patel, Michael Adams, Mehmet Cihan Balci, Gerard T. Berry, Annet M. Bosch, Angela DeLaO, Didem Demirbas, Julianna Edman, Can Ficicioglu, Melanie Goff, Stephanie Hacker, Ina Knerr, Kristen Lancaster, Hong Li, Bryce A. Mendelsohn, Brandi Nichols, Wladimir Bocca Vieira de Rezende Pinto, Júlio César Rocha, M. Estela Rubio‐Gozalbo, Michael Saad‐Naguib, Sabine Scholl‐Buergi, Sarah Searcy, Paulo Victor Sgobbi de Souza, Angela Wittenauer, Judith L. Fridovich‐Keil
Publikováno v:
Journal of inherited metabolic disease, 45(6), 1106-1117. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(6), 1106-1117. Wiley
Journal of Inherited Metabolic Disease, 45(6), 1106-1117. Wiley
Patients with galactosemia who carry the S135L (c.404C>T) variant of GALT, documented to encode low-level residual GALT activity, have been under-represented in most prior studies of outcomes in Type 1 galactosemia. What is known about the acute and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dccf5bae9b52d36f5f72b14fedfa6a0
https://pure.amc.nl/en/publications/a-multinational-study-of-acute-and-longterm-outcomes-of-type-1-galactosemia-patients-who-carry-the-s135l-c404c--t-variant-of-galt(b1723fa3-849c-43e8-b224-fbc91dbbbe38).html
https://pure.amc.nl/en/publications/a-multinational-study-of-acute-and-longterm-outcomes-of-type-1-galactosemia-patients-who-carry-the-s135l-c404c--t-variant-of-galt(b1723fa3-849c-43e8-b224-fbc91dbbbe38).html
Autor:
Rani H. Singh, Marybeth Hummel, Susan Romie, Sheela Shrestha, Chin to Fong, Katie Coakley, Hilary J. Vernon, Dennis Bartholomew, Kelly E. Jackson, Kristin D'Aco, Dwight D. Koeberl, Paula Engelking, Mathew J. Edick, Melissa Samons, Nancy D. Leslie, David Dimmock, Joyanna Hansen, Sandy vanCalcar, Sonja Henry, Barbara Burton, Sarah G. Hainline, Rebecca Loman, Cecilia Rajakaruna, Esperanza Font-Montgomery, Alvaro H. Serrano Russi, Cynthia A. Cameron, Ada Hamosh, Jennie Wilkins, Georgianne L. Arnold, Nancy Ambrose, Cassie Bird, Alexander Asamoah, Yong-hui Jiang, Nancy Smith, David Kronn, Melanie Goff, Emily Phillips, Jerry Vockley, Lauren Dwyer, Sangeetha Lakshman, Adrya Stembridge, Gerald Feldman, Cate Walsh-Vockley, Paul Levy, Barbara K. Burton, Quinn Stein, Loren D.M. Pena, Priya S. Kishnani, Susan Berry, Laura Davis-Keppen, Melinda Dodge, William B. Rizzo, Machelle Dawson, George Hoganson, Kristi Bentler, Kaitlin Justice, Ayesha Ahmad, Richard Erbe, Sara A. Elsbecker, Theresa Hart, Jessica Scott Schwoerer, Susan A. Berry, Shaohui Zhai, William J. Rhead, Tara Chandra Narumanchi, Bryan Hainline, Dawn Peck, Kara Goodin, Sara Elsbecker, Sally J. Hiner, Janet Thomas, Ashley Swan, Racheal Powers, Sue Lipinski, Clare Edano, Georgianne Arnold
Publikováno v:
Molecular Genetics and Metabolism. 119:75-82
Introduction There is limited understanding of relationships between genotype, phenotype and other conditions contributing to health in neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) identified through newborn screening.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32be21d3dd8798aa4118a7a4fd6b6818
https://doi.org/10.1016/j.ymgme.2016.07.002
https://doi.org/10.1016/j.ymgme.2016.07.002
Autor:
Ari Brodach, Mélanie Goffi
Publikováno v:
Développement Durable et Territoires, Vol 4
French urban policy is aimed at implementing a transversal understanding of urban problematics using a participative approach. In that sense its objectives are very much interconnected with those of sustainable development. We can therefore consider
Externí odkaz:
https://doaj.org/article/9ded91eff9e4447083b1305dee3a8754