Galactose metabolism and health
Coelho, Ana I, Berry, Gerard T, Rubio-Gozalbo, M Estela
Published in Current opinion in clinical nutrition and metabolic care (01.07.2015)
Published in Current opinion in clinical nutrition and metabolic care (01.07.2015)
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Journal Article
Pathophysiology of long-term complications in classic galactosemia: What we do and do not know
Fridovich-Keil, Judith L., Berry, Gerard T.
Published in Molecular genetics and metabolism (01.09.2022)
Published in Molecular genetics and metabolism (01.09.2022)
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Journal Article
Hereditary galactosemia
Demirbas, Didem, Coelho, Ana I., Rubio-Gozalbo, M. Estela, Berry, Gerard T.
Published in Metabolism, clinical and experimental (01.06.2018)
Published in Metabolism, clinical and experimental (01.06.2018)
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Journal Article
Uremic solutes and risk of end-stage renal disease in type 2 diabetes: metabolomic study
Niewczas, Monika A., Sirich, Tammy L., Mathew, Anna V., Skupien, Jan, Mohney, Robert P., Warram, James H., Smiles, Adam, Huang, Xiaoping, Walker, Walker, Byun, Jaeman, Karoly, Edward D., Kensicki, Elizabeth M., Berry, Gerard T., Bonventre, Joseph V., Pennathur, Subramaniam, Meyer, Timothy W., Krolewski, Andrzej S.
Published in Kidney international (01.05.2014)
Published in Kidney international (01.05.2014)
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Journal Article
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Welling, Lindsey, Bernstein, Laurie E., Berry, Gerard T., Burlina, Alberto B., Eyskens, François, Gautschi, Matthias, Grünewald, Stephanie, Gubbels, Cynthia S., Knerr, Ina, Labrune, Philippe, van der Lee, Johanna H., MacDonald, Anita, Murphy, Elaine, Portnoi, Pat A., Õunap, Katrin, Potter, Nancy L., Rubio-Gozalbo, M. Estela, Spencer, Jessica B., Timmers, Inge, Treacy, Eileen P., Van Calcar, Sandra C., Waisbren, Susan E., Bosch, Annet M.
Published in Journal of inherited metabolic disease (01.03.2017)
Published in Journal of inherited metabolic disease (01.03.2017)
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Journal Article
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP gene
Zhao, Boxun, Madden, Jill A, Lin, Jasmine, Berry, Gerard T, Wojcik, Monica H, Zhao, Xuefang, Brand, Harrison, Talkowski, Michael, Lee, Eunjung Alice, Agrawal, Pankaj B
Published in European journal of human genetics : EJHG (01.09.2022)
Published in European journal of human genetics : EJHG (01.09.2022)
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Journal Article
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
van Erven, Britt, M.D., Ph.D, Berry, Gerard T., M.D, Cassiman, David, M.D., Ph.D, Connolly, Geraldine, M.D, Forga, Maria, M.D, Gautschi, Matthias, M.D., Ph.D, Gubbels, Cynthia S., M.D., Ph.D, Hollak, Carla E.M., M.D., Ph.D, Janssen, Mirian C., M.D., Ph.D, Knerr, Ina, M.D., Ph.D, Labrune, Philippe, M.D., Ph.D, Langendonk, Janneke G., M.D., Ph.D, Õunap, Katrin, M.D., Ph.D, Thijs, Abel, M.D., Ph.D, Vos, Rein, Ph.D, Wortmann, Saskia B., M.D., Ph.D, Rubio-Gozalbo, M. Estela, M.D., Ph.D
Published in Fertility and sterility (01.07.2017)
Published in Fertility and sterility (01.07.2017)
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Journal Article
Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders
Enns, Gregory M, Berry, Susan A, Berry, Gerard T, Rhead, William J, Brusilow, Saul W, Hamosh, Ada
Published in The New England journal of medicine (31.05.2007)
Published in The New England journal of medicine (31.05.2007)
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Journal Article
High serum serotonin in sudden infant death syndrome
Haynes, Robin L., Frelinger, Andrew L., Giles, Emma K., Goldstein, Richard D., Tran, Hoa, Kozakewich, Harry P., Haas, Elisabeth A., Gerrits, Anja J., Mena, Othon J., Trachtenberg, Felicia L., Paterson, David S., Berry, Gerard T., Adeli, Khosrow, Kinney, Hannah C., Michelson, Alan D.
Published in Proceedings of the National Academy of Sciences - PNAS (18.07.2017)
Published in Proceedings of the National Academy of Sciences - PNAS (18.07.2017)
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Journal Article
Genetic Determinants of Sudden Unexpected Death in Pediatrics
Koh, Hyun Yong, Haghighi, Alireza, Keywan, Christine, Alexandrescu, Sanda, Plews-Ogan, Erin, Haas, Elisabeth A., Brownstein, Catherine A., Vargas, Sara O., Haynes, Robin L., Berry, Gerard T., Holm, Ingrid A., Poduri, Annapurna H., Goldstein, Richard D.
Published in Genetics in medicine (01.04.2022)
Published in Genetics in medicine (01.04.2022)
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Journal Article
The hypergonadotropic hypogonadism conundrum of classic galactosemia
Derks, Britt, Rivera-Cruz, Greysha, Hagen-Lillevik, Synneva, Vos, E Naomi, Demirbas, Didem, Lai, Kent, Treacy, Eileen P, Levy, Harvey L, Wilkins-Haug, Louise E, Rubio-Gozalbo, M Estela, Berry, Gerard T
Published in Human reproduction update (01.03.2023)
Published in Human reproduction update (01.03.2023)
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Journal Article
Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)
Vockley, Jerry, Burton, Barbara, Berry, Gerard T., Longo, Nicola, Phillips, John, Sanchez‐Valle, Amarilis, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Bowden, Alexandra, Chen, Wencong, Chen, Chao‐Yin, Cataldo, Jason, Marsden, Deborah, Kakkis, Emil
Published in Journal of inherited metabolic disease (01.01.2019)
Published in Journal of inherited metabolic disease (01.01.2019)
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Journal Article
An Unexpected Colonic Mass
Li, Andrew A, Cholankeril, George, Berry, Gerard J, Fernandez-Becker, Nielsen
Published in The American journal of gastroenterology (01.01.2019)
Published in The American journal of gastroenterology (01.01.2019)
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Journal Article
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models
Haskovic, Minela, Coelho, Ana I., Bierau, Jörgen, Vanoevelen, Jo M., Steinbusch, Laura K. M., Zimmermann, Luc J. I., Villamor‐Martinez, Eduardo, Berry, Gerard T., Rubio‐Gozalbo, M. Estela
Published in Journal of inherited metabolic disease (01.05.2020)
Published in Journal of inherited metabolic disease (01.05.2020)
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