Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation

por Berry, Gerard T.
Publicado 2017

Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome

por Rana, Mandeep, Cuttin, Karen, Berry, Gerard T., Torres, Alcy
Publicado 2021

The development of end stage renal disease in two patients with PMM2‐CDG

por Tiwary, Henna, Hecht, Leah E., Brucker, William J., Berry, Gerard T., Rodig, Nancy M.
Publicado 2022

Clinical utility of brain MRS imaging of patients with adult-onset non-cirrhotic hyperammonemia

por Stergachis, Andrew B., Krier, Joel B., Merugumala, Sai K., Berry, Gerard T., Lin, Alexander P.
Publicado 2021

[(13)C]‐galactose breath test in a patient with galactokinase deficiency and spastic diparesis

por Ficicioglu, Can, Demirbas, Didem, Derks, Britt, Pai, G. Shashidhar, Timson, David J., Rubio‐Gozalbo, Maria Estela, Berry, Gerard T.
Publicado 2021

Psychosocial developmental milestones in men with classic galactosemia

por Gubbels, Cynthia Sophia, Maurice-Stam, Heleen, Berry, Gerard Thomas, Bosch, Annet Maria, Waisbren, Susan, Rubio-Gozalbo, Maria Estela, Grootenhuis, Martha Alexandra
Publicado 2011

Impaired fertility and motor function in a zebrafish model for classic galactosemia

por Vanoevelen, Jo M., van Erven, Britt, Bierau, Jörgen, Huang, Xiaoping, Berry, Gerard T., Vos, Rein, Coelho, Ana I., Rubio-Gozalbo, M. Estela
Publicado 2017

Effects of triheptanoin (UX007) in patients with long‐chain fatty acid oxidation disorders: Results from an open‐label, long‐term extension study

por Vockley, Jerry, Burton, Barbara, Berry, Gerard, Longo, Nicola, Phillips, John, Sanchez‐Valle, Amarilis, Chapman, Kimberly, Tanpaiboon, Pranoot, Grunewald, Stephanie, Murphy, Elaine, Lu, Xiaoxiao, Cataldo, Jason
Publicado 2020

Phenotypic variability in deficiency of the α subunit of succinate‐CoA ligase

por Demirbas, Didem, Harris, David J., Arn, Pamela H., Huang, Xiaoping, Waisbren, Susan E., Anselm, Irina, Lerner‐Ellis, Jordan P., Wong, Lee‐Jun, Levy, Harvey L., Berry, Gerard T.
Publicado 2019

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

por 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
Publicado 2020

Bumetanide Enhances Phenobarbital Efficacy in a Rat Model of Hypoxic Neonatal Seizures

por Cleary, Ryan T., Sun, Hongyu, Huynh, Thanhthao, Manning, Simon M., Li, Yijun, Rotenberg, Alexander, Talos, Delia M., Kahle, Kristopher T., Jackson, Michele, Rakhade, Sanjay N., Berry, Gerard, Jensen, Frances E.
Publicado 2013

Correction: Bumetanide Enhances Phenobarbital Efficacy in a Rat Model of Hypoxic Neonatal Seizures

por Cleary, Ryan T., Sun, Hongyu, Huynh, Thanhthao, Manning, Simon M., Li, Yijun, Rotenberg, Alexander, Talos, Delia M., Kahle, Kristopher T., Jackson, Michele, Rakhade, Sanjay N., Berry, Gerard T., Jensen, Frances E.
Publicado 2013

Uridine‐responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings

por McGraw, Christopher M., Mahida, Sonal, Jayakar, Parul, Koh, Hyun Yong, Taylor, Alan, Resnick, Trevor, Rodan, Lance, Schwartz, Marc A., Ejaz, Ayesha, Sankaran, Vijay G., Berry, Gerard, Poduri, Annapurna
Publicado 2021

The hypergonadotropic hypogonadism conundrum of classic galactosemia

por 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
Publicado 2022

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

por Bedoyan, Jirair K., Hecht, Leah, Zhang, Shulin, Tarrant, Stacey, Bergin, Ann, Demirbas, Didem, Yang, Edward, Shin, Ha Kyung, Grahame, George J., DeBrosse, Suzanne D., Hoppel, Charles L., Kerr, Douglas S., Berry, Gerard T.
Publicado 2019

The re‐occurrence of cardiomyopathy in propionic acidemia after liver transplantation

por Berry, Gerard T., Blume, Elizabeth D., Wessel, Ann, Singh, Tajinder, Hecht, Leah, Marsden, Deborah, Sahai, Inderneel, Elisofon, Scott, Ferguson, Michael, Kim, Heung Bae, Harris, David J., Demirbas, Didem, Almuqbil, Mohammed, Nyhan, William L.
Publicado 2020

Fertility preservation in female classic galactosemia patients

por van Erven, Britt, Gubbels, Cynthia S, van Golde, Ron J, Dunselman, Gerard A, Derhaag, Josien G, de Wert, Guido, Geraedts, Joep P, Bosch, Annet M, Treacy, Eileen P, Welt, Corrine K, Berry, Gerard T, Rubio-Gozalbo, M Estela
Publicado 2013

Uremic solutes and risk of end stage renal disease in type 2 diabetes

por 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
Publicado 2014

Sodium-myoinositol cotransporter-1, SMIT1, mediates the production of reactive oxygen species induced by hyperglycemia in the heart

por Van Steenbergen, Anne, Balteau, Magali, Ginion, Audrey, Ferté, Laura, Battault, Sylvain, Ravenstein, Christophe de Meester de, Balligand, Jean-Luc, Daskalopoulos, Evangelos-Panagiotis, Gilon, Patrick, Despa, Florin, Despa, Sanda, Vanoverschelde, Jean-Louis, Horman, Sandrine, Koepsell, Hermann, Berry, Gerard, Hue, Louis, Bertrand, Luc, Beauloye, Christophe
Publicado 2017

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

por Smedemark-Margulies, Niklas, Brownstein, Catherine A., Vargas, Sigella, Tembulkar, Sahil K., Towne, Meghan C., Shi, Jiahai, Gonzalez-Cuevas, Elisa, Liu, Kevin X., Bilguvar, Kaya, Kleiman, Robin J., Han, Min-Joon, Torres, Alcy, Berry, Gerard T., Yu, Timothy W., Beggs, Alan H., Agrawal, Pankaj B., Gonzalez-Heydrich, Joseph
Publicado 2016