Chapter 59 - Canavan disease

Autor: Matalon, Dena R., Matalon, Kimberlee Michals, Matalon, Reuben

Publikováno v: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:861-868

List of Contributors

Autor: Abbott, M.A., Akamatsu, Wado, Akman, Hasan Orhan, AlHakeem, Afnan, Ali, Sheliza, AlMutiri, Rowim, Aoyama, Koji, Artuch, Rafael, Aumont-Rodrigue, Gabriel, Baril, Andrée-Ann, Barshop, Bruce A., Beck, Michael, Bennett, C. Frank, Berry, Gerard T., Boitnott, Andrea, Calame, Daniel G., Canine, Brenda, Casy, Widler, Chinnery, Patrick F., Chuang, David T., De Jager, Philip L., Demirbas, Didem, Desnick, Robert J., DiMauro, Salvatore, d’Azzo, A., Eichler, Florian S., Elmquist, Joel K., Emmanuele, Valentina, Engelen, Marc, Esteves, S., Evans, Patricia, Fogel, Brent L., Fremuth, L.E., Gallagher, J., García-Cazorla, Àngels, Garza, Irvin T., Glueck, Amanda C., Golla, Sailaja, Goodarzi, Mohammad, Goodspeed, Kimberly, Gray, Steven J., Gray-Edwards, H., Gropman, Andrea L., Guerrini, Renzo, Guldner, Ian H., Gunn, Teresa M., Haffner, Darrah, Hagerman, R.J., Harel, Tamar, Harp, Jordan P., Head, Elizabeth, Horvath, Rita, Ishii, Makoto, Ishiura, Hiroyuki, Jakkamsetti, Vikram, Jalazo, Elizabeth R., Khorkova, Olga, Kinoshita, Chisato, Kukull, Walter A., Lane, Roger, Latham, Stephen R., Leigh, M.J., Ling, Qinglan, Lupski, James R., Luzi, Paola, Ma, Qian, Maegawa, Gustavo H.B., Marin-Valencia, Isaac, Mastrianni, James A., Matalon, Dena R., Matalon, Kimberlee Michals, Matalon, Reuben, Mathews, Jennifer M., Megagiannis, Platon, Mehta, Nikita, Meltzer, Meira R., Mengel, Eugen, Mew, Nicholas Ah, Millar Vernetti, Patricio, Mitsui, Jun, Monteggia, Lisa M., Morris, Mary Ann, Moser, Hugo W., Murray, Melissa E., Nakaki, Toshio, Nishino, Ichizo, Noble, Denis, Nussbaum, Robert L., Nyhan, William L., Okano, Hideyuki, Parrini, Elena, Pascual, Juan M., Pastores, Gregory M., Patterson, Marc C., Piazza, Michelle K., Picard, Cynthia, Poirier, Judes, Pomerantz, Daniel J., Posey, Jennifer E., Raymond, Gerald V., Renthal, William, Rossignol, Francis, Rouleau, Guy A., Saez-Calveras, Nil, Sandhoff, Konrad, Schiffmann, Raphael, Schindler, Detlev, Schmitt, Frederick A., Schon, Eric A., Schuchman, Edward H., Seashore, Margretta Reed, Sena-Esteves, M., Shaffo, Frances C., Shevell, Michael, Shishodia, Gauri, Sinnett, Sarah E., Srour, Myriam, Stevens, Hannah A., Sugie, Kazuma, Taylor, Alexa, Tedeschi Dauar, Marina, Thinwa, Josephine, Tifft, C., Tsuji, Shoji, Uhlmann, Wendy R., Van Pelt, Kathryn L., Vemuri, Prashanthi, Vernino, Steven, Wahlestedt, Claes, Wang, Bruce, Weesner, J.A., Wenger, David A., Williams, Kevin W., Wolf, Nicole I., Wolfe, John H., Wynn, R. Max, Wyss-Coray, Tony, Yingling, N., Zhou, Yang

Publikováno v: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, Seventh Edition Edition: Seventh Edition. 2025:xix-xxiii

Chapter 36 - The mucolipidoses

Autor: Matalon, Dena, Matalon, Kimberlee Michals, Matalon, Reuben

Publikováno v: In Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease Edition: Sixth Edition. 2020:513-517

Canavan disease: Prenatal diagnosis and genetic counseling

Autor: Matalon, Reuben ^*, Matalon, Kimberlee Michals

Publikováno v: In Obstetrics and Gynecology Clinics of North America 2002 29(2):297-304

Phenylketonuria Scientific Review Conference:State Of The Science And Future Research Needs

Autor: Camp, Kathryn M., Parisi, Melissa A., Acosta, Phyllis B., Berry, Gerard T., Bilder, Deborah A., Blau, Nenad, Bodamer, Olaf A., Brosco, Jeffrey P., Brown, Christine S., Burlina, Alberto B., Burton, Barbara K., Chang, Christine S., Coates, Paul M., Cunningham, Amy C., Dobrowolski, Steven F., Ferguson, John H., Franklin, Thomas D., Frazier, Dianne M., Grange, Dorothy K., Greene, Carol L., Groft, Stephen C., Harding, Cary O., Howell, R. Rodney, Huntington, Kathleen L., Hyatt-Knorr, Henrietta D., Jevaji, Indira P., Levy, Harvey L., Lichter-Konecki, Uta, Lindegren, Mary Lou, Lloyd-Puryear, Michele A., Matalon, Kimberlee, MacDonald, Anita, McPheeters, Melissa L., Mitchell, John J., Mofidi, Shideh, Moseley, Kathryn D., Mueller, Christine M., Mulberg, Andrew E., Nerurkar, Lata S., Ogata, Beth N., Pariser, Anne R., Prasad, Suyash, Pridjian, Gabriella, Rasmussen, Sonja A., Reddy, Uma M., Rohr, Frances J., Singh, Rani H., Sirrs, Sandra M., Stremer, Stephanie E., Tagle, Danilo A., Thompson, Susan M., Urv, Tiina K., Utz, Jeanine R., van Spronsen, Francjan, Vockley, Jerry, Waisbren, Susan E., Weglicki, Linda S., White, Desiree A., Whitley, Chester B., Wilfond, Benjamin S., Yannicelli, Steven, Young, Justin M.

New developments in the treatment and management of phenylketonuria (PKU) as well as advances in molecular testing have emerged since the National Institutes of Health 2000 PKU Consensus Statement was released. An NIH State-of-the-Science Conference

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9960a8b7b9eb9686a82fe1d1882444d9