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Long‐term outcomes in a 25‐year‐old female affected with lipin‐1 deficiency

Autor: Stepien, Karolina M., Schmidt, Wolfgang M., Bittner, Reginald E., O'Toole, Orna, McNamara, Brian, Treacy, Eileen P.

Publikováno v: JIMD Reports

Lipin‐1 is a phosphatidic acid phosphohydrolase (EC 3.1.3.4) that catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol and inorganic phosphate. Deficiency of this enzyme causes potentially fatal severe, recurrent episodes of rhabd

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmc_________::f1ff1e39197556aab8a34c6cb39f6137
http://europepmc.org/articles/PMC6498837

Contributors

Autor: Abdulai-Saiku, Samira, Appel, Stanley H., Arnold, Arthur P., Arnold, Lisa M., Arnold, Robert M., Bacha, Alexa, Backonja, Miroslav “Misha”, Bailey, Zinzi D., Bateman, Lucinda, Beers, David R., Berti, Anna, Bhatnagar, Mamta, Binder, Devin K., Boido, Marina, Boldrini, Maura, Borsook, David, Breakefield, Xandra O., Brown, Robert H., Jr., Burstein, Rami, Butelman, Eduardo R., Caplan, Louis R., Chen, S., Chesselet, Marie-Françoise, Clemens, Stefan, Clemens, Paula R., Coyle, Joseph T., DeWitt, John C., Dubal, Dena B., Dubljević, Veljko, Feldman, Eva L., Fischer, Beth A., Flux, M.C., Fortin, J.S., Frasca, Angelisa, Garbarini, Francesca, Gasser, Thomas, Gillespie, Charles F., Gold, Michael S., Gold, Stefan M., Hagerman, Randi, Hamel, Regan, Haney, Craig, Harris, James C., Hassani, Sara, Haughey, Norman J., Heng, Vibol, Horn, J., Ionescu, Rosana-Bristena, Iorio, Raffaele, Irwin, David J., Kaminski, Henry J., Khammash, Dalia, Khurana, Vikram, Kilstrup-Nielsen, Charlotte, Kim, Bhumsoo, Kim, Boram, Klein, Marieke, Koen, Nastassja, Konopaske, Glenn T., Korecka, Joanna A., Kornum, Birgitte Rahbek, Kreek, Mary Jeanne, Kristensson, Krister, Krzak, Grzegorz, Kusner, Linda L., Landsberger, Nicoletta, Lee, Edward B., Li, Tong, Liberski, Paweł P., Lochner, Christine, Lowry, Christopher A., Mann, J. John, Marincowitz, Clara, Mayer, E.A., Mayer, E.D., McCall, Iris Coates, McCullough, Louise D., Meaney, Michael J., Melo de Gusmao, Claudio, Menesgere, Abhishek L., Mignot, Emmanuel, Mobley, William C., Montalvo, Mayra, Moreland-Capuia, Alisha R., Neppi-Modona, Marco, Nicaise, Alexandra M., Nishi, Rae, O'Toole, Orna, Overk, Cassia, Ozelius, Laurie, Parsons, Matthew P., Penticoff, H.B., Peruzzotti-Jametti, Luca, Peters, Owen M., Peterson, Allison, Phan, Jessica M., Pittock, Sean J., Pluchino, Stefano, Polk, Thad A., Puwanant, Araya, Rajagopal, Shreya K., Ravindranath, Vijayalakshmi, Raymond, Lynn A., Reed, Brian, Ressler, Kerry J., Ritchie, Diane L., Rubin, Leah H., Sakowski, Stacey A., Saporta, Mario A., Savonenko, Alena V., Scharfman, Helen E., Shapiro, Bruce K., Sharma, Nutan, Shaw, Cayce K., Shy, Michael E., Sikorska, Beata, Silverman, Ethan J., Simon, Roger P., Simonyan, Kristina, Sims-Robinson, Catrina, Smeyne, Richard Jay, Smith, Clay, Smith, Colin, Srinivasan, Sharan R., Stein, Dan J., Stephen, Christopher D., Subramanian, Indu, Szabo, Edina, Thomas, Alissa A., Tovar-y-Romo, Luis B., Vahabzadeh, Arshya, Vercelli, Alessandro, Viera-Ortiz, Ashley, Wallin, Mitchell T., Werling, Donna M., Wichmann, Thomas, Wiley, Clayton A., Williams, David R., Willis, Cory, Wong, Philip C., Yuferov, Vadim, Zhao, Weihua, Zigmond, Michael J., Živković, Saša A.

Publikováno v: In Neurobiology of Brain Disorders Edition: Second Edition. 2023:xvii-xxii

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