194 - The Porphyrias

Autor: Hift, Richard J.

Publikováno v: In Goldman-Cecil Medicine Edition: 27th Edition. 2024:1428-1435

Contributors

Autor: Abrams, Charles S., Adler, Ronald S., Agarwal, Anupam, Akin, Cem, Aksamit, Allen J., Jr., Al-Awqati, Qais, Allen, Upton D., Allos, Ban Mishu, Angus, Derek C., Appelbaum, Frederick R., Armitage, James O., Armstrong, April W., Armstrong, Deborah K., Arnaout, M. Amin, Arnold, Robert M., Aronson, Louise, Atkinson, John P., Attia, Evelyn, Auerbach, Andrew D., Ayanian, John Z., Baddour, Larry M., Baden, Lindsey R., Bailey, Thomas C., Bain, Barbara J., Bajorin, Dean F., Baloh, Robert W., Bangham, Charles R.M., Barasch, Jonathan, Barrett, Bruce, Bartholomew, John R., Bartleson, J.D., Barton, Mary B., Basner, Robert C., Bass, Adam J., Bass, Anne R., Bauman, Julie E., Bausch, Daniel G., Bayer, Arnold S., Bazarian, Jeffrey J., Bearman, Gonzalo M., Becker, Richard C., Beckham, J. David, Beckman, Joshua A., Beigel, John H., Bel, Elisabeth H., Belda, Walter, Jr., Benarroch, Eduardo E., Berger, Joseph R., Berliner, Nancy, Bernat, James L., Bessesen, Daniel H., Bibbins-Domingo, Kirsten, Biesecker, Leslie G., Biundo, Joseph J., Blankson, Joel N., Bloch, Karen C., Blom, Henk J., Boden, William E., Boivin, Guy, Bolognia, Jean, Bonomo, Robert A., Booth, Sarah L., Bosaeus, Ingvar G., Brenner, David J., Bridges, S. Louis, Jr., Brochard, Laurent, Brodsky, Robert A., Brook, Itzhak, Brown, Jennifer R., Brunetti, Enrico, Bryant, Amy E., Budge, Philip J., Buffet, Pierre A., Bushinsky, David A., Bykerk, Vivian P., Calabresi, Peter A., Calello, Diane P., Calfee, David P., Callahan, S. Todd, Camilleri, Michael, Canoso, Juan J., Cappellini, Maria Domenica, Carabello, Blase A., Carucci, Laura R., Castells, Mariana, Catherino, William H., Cederholm, Tommy E., Chalasani, Naga P., Chambers, Henry F., Chang, Larry W., Chang, Lin, Chao, Nelson J., Chatterjee, Mitali, Chaturvedi, Seemant, Chen, Lin H., C-A Chen, Sharon, Chon, Susan Y., Christiani, David C., Chu, Edward, Cieslak, Theodore J., Cioffi, George A., Clancy, Carolyn M., Clauss, Heather, Clauw, Daniel J., Clemmons, David R., Coffman, Thomas M., Cohen, David, Cohen, Jeffrey, Cohen, Myron S., Cohen, Steven P., Connors, Joseph M., Cook, Deborah J., Cook, Lucy B.M., Cooney, Kathleen A., Craigen, William J., Crandall, Jill P., Croft, Simon L., Crow, Mary K., Crump, John A., Cudkowicz, Merit E., Cunningham-Rundles, Charlotte, Dahir, Kathryn M., Damon, Inger K., Daras, Michael, Dart, Richard C., Davidson, Nancy E., Deane, Kevin D., DeAngelis, Lisa M., DeCamp, Malcolm M., DeLoughery, Thomas G., Rio, Carlos del, De Luca, Gabriele C., Denning, David W., Deuster, Patricia A., DeZern, Amy E., Dhatariya, Ketan K., Diasio, Robert B., Diemert, David J., Digre, Kathleen B., Dilsizian, Vasken, Dionne, Jodie A., Di Paola, Jorge, Dispenzieri, Angela, Dogra, Sunil, Doroshow, James H., Douglas, John M., Jr., Drazen, Jeffrey M., Drekonja, Dimitri, Dubberke, Erik R., DuBeau, Catherine E., Dumler, J. Stephen, Duvic, Madeleine, Ebi, Kristie, Edwards, Kathryn M., Edwards, N. Lawrence, Eikelboom, John W., Einhorn, Lawrence H., Elliott, Perry M., Emanuel, Ezekiel J., Falagas, Matthew E., Falk, Gary W., Fang, James C., Farley, Monica M., Feder, Gene, Feller-Kopman, David J., McDonald File, Thomas, Jr., Fishman, Glenn I., Flack, John M., Fleckenstein, James M., Fleisher, Lee A., Flint, Paul W., Fogel, Evan L., Fontana, Robert J., Forsmark, Chris E., Fournier, Pierre-Edouard, Fowler, Vance G., Jr., Franco, Manuel A., Fraser, Victoria J., Freeman, Roy, Freund, Karen M., Froberg, Blake A., Gallagher, Patrick G., Gandhi, Monica, Gandhi, Rajesh T., Ganz, Leonard, Garan, Hasan, Garcia-Tsao, Guadalupe, Geisler, William M., Gelfand, Joel M., George, Tony P., Gepstein, Lior, Gertz, Morie A., Ghanem, Khalil G., Gharavi, Ali G., Ghossein, Cybele, Gill, Christopher J., Ginsburg, Geoffrey S., Glesby, Marshall J., Gnann, John W., Jr., Goldman, David L., Goldman, Lee, Goldstein, Larry B., Gordon, Anthony C., Gotlib, Jason, Gotuzzo, Eduardo, Grasemann, Hartmut, Green-McKenzie, Judith, Greenberg, Harry B., Greenberg, Steven A., Greer, David M., Greysen, S. Ryan, Griffin, Marie R., Griggs, Robert C., Grossman, Daniel, Guay-Woodford, Lisa M., Gulick, Roy M., Haake, David A., Hagman, Melissa M., Hagspiel, Klaus D., Harris, Raymond C., Havers, Fiona P., Heath, Elisabeth I., Hecht, Frederick M., Hensrud, Donald D., Hess, Jeremy, Hewlett, Erik L., Hift, Richard J., Hill, David R., Hill, Nicholas S., Hillyer, Christopher D., Hirsch, Hans H., Hoeper, Marius M., Hoit, Brian D., Holers, V. Michael, Holland, Steven M., Hollenberg, Anthony N., Hollenberg, Steven M., Howard, Jo, Hunter, David J., Hussain, Khalid, Iannuzzi, Michael C., Inman, Robert D., Inouye, Sharon K., Ison, Michael G., Jen, Joanna C., Jensen, Dennis M., Jensen, Michael D., Jensen, Robert T., Johnston, S. Claiborne, Jones, Robin L., Jordan, Richard C., Kahi, Charles J., Kaiser, Laurent, Kaminski, Henry J., Kamya, Moses R., Kao, Louise W., Kaplan, Steven A., Kastner, Daniel L., Katzka, David A., Katzman, Debra K., Kaushansky, Kenneth, Kaye, Keith S., Keating, Armand, Kelley, Robin K., Kennedy, Richard B., Khuri, Fadlo R., Kim, Rose, Kirchhoff, Louis V., Kirking, Hannah, Kirtane, Ajay J., Kishnani, Priya S., Klausner, Jeffrey D., Klion, Amy D., Klompas, Michael, Knopman, David S., Ko, Christine J., Kodali, Susheel, Kontoyiannis, Dimitrios P., Koppel, Barbara S., Korenblat, Kevin M., Korf, Bruce R., Kortepeter, Mark G., Koshy, Anita A., Kottilil, Shyamasundaran, Kovacs, Joseph A., Kovacs, Thomas O., Kowdley, Kris V., Kraft, Monica, Kramer, Christopher M., Krasnewich, Donna M., Kraus, William E., Krause, Peter J., Kroger, Andrew T., Kroshinsky, Daniela, Kuemmerle, John F., Kuipers, Ernst J., Kutner, Jean S., Laheru, Daniel, Lampert, Rachel, Landefeld, C. Seth, Landovitz, Raphael J., Landry, Donald W., Lange, Richard A., Lee, Hochang B., Lee, Nelson, Levey, Andrew S., Levine, Stephanie M., Lichtenstein, Gary R., Liebmann, Jeffrey M., Liebschutz, Jane M., Lim, Henry W., Lima, Aldo A.M., Limaye, Ajit P., Limdi, Nita A., Link, Mark S., Liu, Catherine, Lloyd-Jones, Donald M., Lopez, Fred A., Louie, Arnold, Lyness, Jeffrey M., MacKenzie, C. Ronald, MacLennan, Calman A., MacMillan, Harriet L., Madoff, Robert D., Maher, Jacquelyn, Maier, Lisa A., Maldarelli, Frank, Malhotra, Atul, Manary, Mark J., Marcos, Luis A., Marelli, Ariane J., Marks, Andrew R., Marschall, Jonas, Martin, Paul, Martinez, Fernando J., Mason, Joel B., Masur, Henry, Mathers, Amy J., Matthay, Michael A., McCool, F. Dennis, McInnes, Iain B., McLaughlin, Vallerie, McMichael, Amy, McMurray, John J.V., McQuaid, Kenneth R., Mead, Paul S., Means, Robert T., Jr., Melia, Michael T., Mellinghoff, Ingo K., Melton, Genevieve B., Merrick, Samuel T., Miceli, Marisa H., Michel, Marc, Mokdad, Ali H., Moy, Ernest, Mukherjee, Debabrata, Murr, Andrew H., Myerburg, Robert J., Nadeau, Kari C., Nath, Avindra, Neal-Perry, Genevieve, Neilson, Eric G., Nelson, Christina A., Nelson, David B., Nelson, Lewis S., Nestler, Eric J., Neuzil, Kathleen M., Nieman, Lynnette K., Niven, Alexander S., O’Connor, Christopher M., O’Connor, Francis G., O’Connor, Patrick G., O’Donnell, Anne E., O’Donnell, James S., Oh, Jae K., Okun, Michael S., O’Leary, Sean T., Olgin, Jeffrey E., Olivier, Kenneth N., Olivotto, Iacopo, Olsen, Nancy J., Orenstein, Walter A., Ortel, Thomas L., O’Shea, John J., Osmon, Douglas R., Ostrem, Jill L., Ostrosky-Zeichner, Luis, Otto, Catherine M., Ottolini, Martin G., Ovsyannikova, Inna G., Pappas, Peter G., Park, Ben Ho, Patel, Robin, Patterson, Thomas F., Pawlotsky, Jean-Michel, Payne, Thomas H., Pearce, Elizabeth N., Pearson, Richard D., Perl, Trish M., Petersen, Brett W., Petri, William A., Jr., Pfeffer, Marc A., Philips, Jennifer A., Pisetsky, David S., Pletcher, Steven D., Plumb, Ian D., Poland, Gregory A., Powell, Frank, Pyeritz, Reed E., Quinn, Thomas C., Racaniello, Vincent, Radhakrishnan, Jai, Radich, Jerald, Rafailidis, Petros I., Raghu, Ganesh, Ragni, Margaret V., Rahman, Proton, Rajkumar, S. Vincent, Ralston, Stuart H., Raoult, Didier, Reboli, Annette C., Reddy, K. Rajender, Redelmeier, Donald A., Redlich, Carrie A., Reilly, John, Reller, Megan E., Reno, Hilary E.L., Resnick, Neil M., Rice, Louis B., Roach, E. Steve, Robinson, Jennifer G., Rogatsky, Inez, Rogers, Joseph G., Rolain, Jean-Marc, Rollins, Barrett J., Romero, José R., Rosen, Jennifer B., Rosenthal, Philip J., Russell, James A., Rustgi, Anil K., Safer, Joshua D., Saini, Sarbjit S., Salmon, Jane E., Salvana, Edsel Maurice T., Santoro, Nanette, Santucci, Peter A., Sarnak, Mark J., Savage, Kerry J., Savard, Patrice, Sawka, Michael N., Scanlon, Paul D., Schafer, Andrew I., Schiff, Manuel, Schilsky, Michael L., Schneider, Thomas Rudolf, Schooley, Robert T., Schriger, David L., Schuchter, Lynn M., Schwartz, Lawrence B., Seas, Carlos, Seifert, Steven A., Seifter, Julian Lawrence, Selcen, Duygu, Selim, Magdy, Semrad, Carol E., Sepulveda, Jorge, Shaw, Pamela J., Shaz, Beth H., Sheridan, Robert L., Sherman, Stuart, Shojania, Kaveh G., Shopsin, Bo, Shy, Michael E., Sidransky, Ellen, Sifri, Costi D., Siliciano, Robert F., Simel, David L., Skorecki, Karl, Slawski, Barbara A., Slutsky, Arthur S., Smetana, Gerald W., Smith, A. Gordon, Smith, Stephen R., Southwick, Frederick S., Spiegel, Allen M., Spiera, Robert, Spinola, Stanley M., Spong, Catherine Y., Stabler, Sally P., Stark, Paul, St. Clair, E. William, Steiner, Theodore S., Stephens, David S., Stevens, David A., Stevens, Dennis L., Stokes, M. Barry, Stoller, James K., Stone, John H., Stone, Richard M., Su, Edwin P., Swerdloff, Ronald S., Swygard, Heidi, Sykes, Megan, Talbot, H. Keipp, Tamimi, Rulla M., Tanofsky-Kraff, Marian, Tarlo, Susan M., Taylor, Stephanie N., Teirstein, Paul S., Telford, Sam R., III, Thakker, Rajesh V., Therrien, Judith, Thompson, George R., III, Tormoehlen, Laura, Tosti, Antonella, Trehan, Indi, Umpierrez, Guillermo E., Valeri, Anthony Michael, Varga, John, Vaughn, Bradley V., Venook, Alan P., Verbalis, Joseph G., Vose, Julie M., Wachter, Robert M., Walsh, B. Timothy, Walsh, Edward E., Walsh, Thomas J., Walston, Jeremy D., Walter, Roland B., Wang, Christina, Wang, Kenneth K., Ware, Lorraine B., Warren, Cirle A., Watkins, Paul B., Weber, Thomas J., Weimer, Louis H., Weinberg, Geoffrey A., Weinstein, Robert S., Weiss, Roger D., Weiss, Roy E., Weitz, Jeffrey I., Welt, Frederick G.P., Wenzel, Richard P., Werth, Victoria P., West, Sterling G., White, A. Clinton, Jr., White, Christopher J., White, Julian, White, Perrin C., Whitley, Richard J., Whyte, Michael P., Wiebe, Samuel, Wiener-Kronish, Jeanine P., Wilber, David J., Wilcox, Mark H., Winikoff, Beverly, Winter, Jane N., Wittink, Marsha N., Wolff, Tracy A., Wolin, Edward M., Wormser, Gary P., Yancy, Clyde W., Young, Neal S., Young, Vincent B., Young, William F., Jr., Yu, Alan S.L., Zimetbaum, Peter, Zucker, Jane R.

Publikováno v: In Goldman-Cecil Medicine Edition: 27th Edition. 2024:viii-xxviii

Identification of Two Novel Mutations in the Hydroxymethylbilane Synthase Gene in Three Patients from Two Unrelated Families with Acute Intermittent Porphyria

Autor: Ong, Patricia M. L., Lanyon, W. George, Hift, Richard J., Halkett, Janet, Cramp, Celia E., Michael R., Moore, Connor, J. Michael

Publikováno v: Human Heredity, 1998 Jan 01. 48(1), 24-29.

Externí odkaz: https://www.jstor.org/stable/48506858

210 - Porfirias

Autor: Hift, Richard J.

Publikováno v: In Goldman-Cecil Medicina Edition: 25th Edition. 2017:1436

Variegate porphyria in South Africa, 1688 - 1996 - new developments in an old disease

Autor: Hift, Richard J., Meissner, Peter N., Corrigall, Anne V., Ziman, Mel R., Petersen, Lavinia A., Meissner, Doreen M., Davidson, Brandon P., Sutherland, Jean, Dailey, Harry A., Kirsch, Ralph E.

Publikováno v: South African Medical Journal; Vol 87, No 6 (1997); 722-727

Variegate porphyria, an autosomal dominant inherited trait resulting in decreased activity of protoporphyrinogen oxidase, the penuttimate haem biosynthetic enzyme, is characterised clinically by photosensitive skin disease and a propensity to acute n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::0477029ac0a570a77c32cf5286fd60ce
https://www.ajol.info/index.php/samj/article/view/157270