Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study

Autor: Levin, Sondra W, Baker, Eva H, Zein, Wadih M, Zhang, Zhongjian, Quezado, Zenaide M N, Miao, Ning, Gropman, Andrea, Griffin, Kurt J, Bianconi, Simona, Chandra, Goutam, Khan, Omar I, Caruso, Rafael C, Liu, Aiyi, Mukherjee, Anil B

Publikováno v: In Lancet Neurology August 2014 13(8):777-787

6.14 - Progressive and “Stationary” Inherited Retinal Degenerations

Autor: Cukras, Catherine A., Zein, Wadih M., Caruso, Rafael C., Sieving, Paul A.

Publikováno v: In Ophthalmology Edition: Fifth Edition. 2019:482-491

Menkes’ syndrome: Ophthalmic findings

Autor: Gasch, Alice T, Caruso, Rafael C, Kaler, Stephen G, Kaiser-Kupfer, Muriel ^*

Publikováno v: In Ophthalmology August 2002 109(8):1477-1483

Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report

Autor: Stuart Caroline, Caruso Rafael C, Kleta Robert, Brooks Brian P, Ludlow Jonathan, Stratakis Constantine A

Publikováno v: BMC Ophthalmology, Vol 4, Iss 1, p 7 (2004)

Abstract Background Triple-A syndrome (Allgrove syndrome) is an autosomal recessive disorder characterized by adrenal insufficiency, alacrima, achalasia, and – occasionally – autonomic instability. Mutations have been found in the AAAS gene on 12

Externí odkaz: https://doaj.org/article/27b59baba59d419db11dec1195711528

Colaboradores

Autor: Acera, Erika C., Afshari, Natalie A., Agarwal, Anita, Agranat, Joshua S., Ajlan, Radwan S., Akhlaq, Anam, Albini, Thomas A., Al-Ghoul, Ahmed, Ali, Ferhina S., Alió, Jorge L., Allemann, Norma, Allen, David, Allman, Keith G., Alvi, Nishat P., Ang, Leonard P.K., Apple, David J., Aquino, Maria Cecilia D., Arnold, Anthony C., Arshinoff, Steve A., Asbell, Penny A., Assil, Kerry K., Atebara, Neal H., Augsburger, James J., Aylward, G. William, Azar, Dimitri T., Bakri, Sophie J., Balcer, Laura J., Balducci, Nicole, Barboni, Piero, Barnett, Cullen J., Basu, Soumyava, Batta, Priti, Baumal, Caroline R., Bearelly, Srilaxmi, Berry, Jesse L., Bessette, Angela P., Bhatt, Nirali, Birdsong, Orry C., Biswas, Jyotirmay, Bodaghi, Bahram, Bose, Swaraj, Bouchard, Charles S., Boulton, Michael E., Brandt, James D., Brodie, Scott E., Brodsky, Michael C., Brooks, Cassandra C., Brumm, Matthew V., Budenz, Donald L., Bussel, Igor I., Cantor, Louis B., Capó, Hilda, Capone, Antonio, Jr., Carruthers, Alastair, Carruthers, Jean, Carter, Keith D., Caruso, Rafael C., Chahal, Harinderpal S., Chamon, Wallace, Chan, Chi-Chao, Chang, Melinda Y., Chang, Stanley, Chang, Victoria S., Charteris, David G., Chee, Soon-Phaik, Chen, John J., Chen, Xuejing, Chew, Paul T.K., Chiu, Bing, Chow, Clement C., Civan, Mortimer M., Clark, Abbot (Abe), Clarke, Jonathan C.K., Codère, François, Conner, Ian P., Coombs, Peter, Corrêa, Zélia M., Couch, Steven M., Coupland, Stuart G., Cowan, Claude L., Jr., Craven, E. Randy, Cukras, Catherine A., Dagi, Linda R., Dahan, Elie, Damgaard, Iben Bach, Damji, Karim F., Das, Dipankar, DeBusk, Adam, de la Cruz, Jose, Demer, Joseph L., Desai, Shilpa J., Dhaliwal, Deepinder K., Diamond, Gary R., Diniz, Daniel, Do, Diana V., Dolman, Peter J., Donahue, Sean P., Dortzbach, Richard K., Drenser, Kimberly A., Duker, Jacob S., Duker, Jay S., Durairaj, Vikram D., Dutton, Jonathan J., Edgington, Bryan, Eggers, Howard M., Eliott, Dean, Ellis, George S., Jr., Engelbert, Michael, Englander, Miriam, Esmaeli, Bita, Evans, Joshua W., Evans, Monica, Fahd, Daoud S., Faia, Lisa J., Fallano, Katherine A., Farjo, Ayad A., Feinstein, Eric, Fernandez, Karen B., Fisher, Yale L., Fishman, Gerald A., Fortun, Jorge A., Fragoso, Veronica Vargas, Freeman, Nicola, Friedman, David S., Friedman, Deborah I., Friedman, Neil J., Fynn-Thompson, Nicoletta, Gadaria-Rathod, Neha, Garcia-Zalisnak, Debora E., Gayre, Gregg S., Gedde, Steven J., Gery, Igal, Ghanem, Ramon C., Ghanem, Vinícius C., Ghosh, Saurabh, Gibbons, Allister, Gigantelli, James W., Giri, Pushpanjali, Goldberg, Ivan, Goldberg, Jeffrey L., Goldstein, Debra A., Goldstein, Michael H., Gonzales, John A., Granet, David B., Gray, Matthew J., Green, Kyle M., Greven, Craig M., Greven, Margaret A., Gross, Josh C., Gross, Ronald L., Grover, Sandeep, Guercio, Jason R., Gueudry, Julie, Gündüz, Ahmet Kaan, Hallak, Joelle A., Haller, Julia A., Hamrah, Pedram, Hardten, David R., Harris, Alon, Heier, Jeffrey S., Herndon, Leon W., Jr., Ho, Allen C., Hood, Christopher T., Hou, Joshua H., Houghton, Odette M., Houser, Kourtney, Howes, Frank W., Hsu, Jason, Hurwitz, Jeffrey J., Irochima, Francisco, Isteitiya, Jihad, Izak, Andrea M., Jacobs, Deborah S., Jain, Sandeep, Jampel, Henry D., Jampol, Lee M., Jap, Aliza, Johnson, Chris A., Johnson, Mark W., Johnson, T. Mark, Kaehr, Mark M., Kahook, Malik Y., Kaiser, Peter K., Kalarn, Sachin P., Kalevar, Ananda, Kane, Steven, Kanner, Elliott M., Kaplowitz, Kevin, Kapusta, Michael A., Karanjia, Rustum, Kardon, Randy H., Karp, Carol L., Kashani, Amir H., Kass, Michael A., Kataguiri, Paula, Katz, L. Jay, Kaufman, Paul L., Keenan, Jeremy D., Kenyon, Kenneth R., Khaw, Sir Peng Tee, Kim, Gene, Kim, Ivana K., Kimura, Alan E., Kinori, Michael, Kirwan, Caitriona, Kiss, Szilárd, Kitchens, John W., Klein, Kendra, Koch, Douglas D., Koh, Victor T.C., Kohnen, Thomas, Koustenis, Andrew, Lane, Stephen S., Lavin, Patrick J.M., Lavinsky, Fabio, Lawton, Andrew W., Lee, Bryan S., Lee, Daniel, Lee, Gregory D., Lee, Olivia L., Lee, Paul P., Lee, Richard M.H., Lim, Dawn K.A., Lim, Jennifer I., Lim, Ridia, Lin, Tony K.Y., Lind, John T., Liu, Yao, Liyanage, Sidath E., Lockwood, Alastair J., Loewen, Nils A., Longmuir, Reid A., Lopez, Pedro F., Lundström, Mats, Maamari, Robi N., Madu, Assumpta, Maloney, Maya H., Mandava, Naresh, Marmor, Michael F., Mathura, Jeevan R., Jr., Mattox, Cynthia, McClatchey, Scott K., McLeod, Stephen D., McMillan, Brian D., McNab, Alan A., Mehta, Jodhbir S., Mejico, Luis J., Mercado, Carolina L., Mian, Shahzad I., Mieler, William F., Miller, David, Miller, Kyle E., Mimura, Tatsuya, Mirza, Rukhsana G., Mititelu, Mihai, Moorthy, Ramana S., Moshfeghi, Andrew A., Moshirfar, Majid, Moss, Heather E., Moster, Mark L., Muir, Kelly W., Neff, Ann G., Nerad, Jeffrey A., Nikpoor, Neda, Noecker, Robert J., Nosé, Ricardo, Okada, Annabelle A., O’Keefe, Michael, Olson, Jeffrey L., Olver, Jane M., Opalinski, Yvonne A.V., Örge, Faruk H., Packer, Mark, Pandey, Suresh K., Parikh, Vishal S., Pasquale, Louis R., Patel, Sarju S., Patel, Vivek R., Pavesio, Carlos E., Perez, Victor L., Perez-Straziota, Claudia E., Phillips, Lauren T., Piltz-Seymour, Jody R., Piva, Alfio P., Podbielski, Dominik W., Pondelis, Nicolas J., Price, Francis W., Jr., Price, Marianne O., Pritchard, Cindy, Quiros, Peter A., Rachitskaya, Aleksandra V., Ramulu, Pradeep Y., Randleman, J. Bradley, Rao, Narsing A., Rao, Naveen K., Rao, P. Kumar, Rao, Rajesh C., Rathinam, Sivakumar, Read, Russell W., Regatieri, Caio Vinicius Saito, Regillo, Carl D., Reichel, Elias, Rhee, Douglas J., Ringeisen, Alexander L., Ritch, Robert, Robbins, Shira L., Rodger, Damien C., Roh, Miin, Roh, Shiyoung, Rosado-Adames, Noel, Rosen, Emanuel S., Rubenstein, Jonathan B., Rubin, Richard M., Rubin, Steven E., Rubsamen, Patrick E., Rupp, Jason D., Saadati, Hossein G., Sadun, Alfredo A., Saeedi, Osamah J., Salchow, Daniel J., Salim, Sarwat, Samuelson, Thomas W., Sandhu, Simrenjeet, Santhiago, Marcony R., Savini, Giacomo, Sayed-Ahmed, Ibrahim O., Scheffler, Amy C., Schor, Paulo, Schubert, Hermann D., Schuman, Joel S., Schwartz, Gary S., Sebag, J., Sebrow, Dov B., Sen, H. Nida, Shah, Gaurav K., Shields, Carol L., Shildkrot, Yevgeniy (Eugene), Shingleton, Bradford J., Shtein, Roni M., Shultz, Ryan W., Sierra, Patricia B., Siesky, Brent, Sieving, Paul A., Skondra, Dimitra, Small, Kent W., Smiddy, William E., Somogyi, Marie, Soong, H. Kaz, Soukiasian, Sarkis H., Spaide, Richard F., Spektor, Tatyana, Spoor, Thomas C., Srivastava, Sunil K., Stagg, Brian C., Steel, David H.W., Stein, Joshua D., Strominger, Mitchell B., Sugar, Alan, Sugar, Joel, Sychev, Yevgeniy V., Tai, Tak Yee Tania, Tan, James C., Tanenbaum, Myron, Taneri, Suphi, Tasman, William, Telander, David G., Thall, Edmond H., Thanos, Aristomenis, Theophanous, Christos N., Thomas, Benjamin J., Thulasi, Praneetha, Tibbetts, Michael D., Tingey, David P., Tobaigy, Faisal M., Todorich, Bozho, Tompson, Stuart W., Tsai, James C., Tsai, Julie H., Tucker, Nancy, Tuli, Sonal S., Vargason, Caroline W., Vasaiwala, Roshni A., Vasconcelos-Santos, Daniel Vitor, Vaughn, Gregory J., Venkat, Arthi, Villarreal, Guadalupe, Jr., Vinod, Kateki, Vislisel, Jesse M., Vrcek, Ivan, Wadia, Hormuz P., Walker, Brian D., Walton, David S., Wang, Li, Wang, Michelle Y., Wang, Robert C., Wax, Martin, Weinstein, Joel M., Weiter, John J., Werner, Liliana, Wevill, Mark, Wiggs, Janey L., Williams, Andrew M., Williams, George A., Witmer, Matthew T., Wollstein, Gadi, Woodward, Maria A., Wride, Nicholas K., Wu, Albert, Xu, David, Young, Joshua A., Yung, Edward S., Yu-Wai-Man, Cynthia, Zein, Wadih M., Zhu, Ivy

Publikováno v: In Oftalmología Edition: Fifth Edition. 2020:xiv-xxii