Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia

Por Edvardson, Simon, Hama, Hiroko, Shaag, Avraham, Gomori, John Moshe, Berger, Itai, Soffer, Dov, Korman, Stanley H., Taustein, Ilana, Saada, Ann, Elpeleg, Orly
Publicado em 2008

Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum

Por Banne, Ehud, Meiner, Vardiella, Shaag, Avraham, Katz-Brull, Rachel, Gamliel, Ayelet, Korman, Stanley, Cederboim, Smadar Horowitz, Duvdevani, Morasha Plesser, Frumkin, Ayala, Zilkha, Amir, Kapuller, Vadim, Arbell, Dan, Cohen, Elite, Eventov-Friedman, Smadar
Publicado no JIMD Rep (2015)

A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents

Por Raas-Rothschild, Annick, Wanders, Ronald J. A., Mooijer, Petra A. W., Gootjes, Jeannette, Waterham, Hans R., Gutman, Alisa, Suzuki, Yasuyuki, Shimozawa, Nobuyuki, Kondo, Naomi, Eshel, Gideon, Espeel, Marc, Roels, Frank, Korman, Stanley H.
Publicado em 2002

Diversion of aspartate in ASS1-deficient tumors fosters de novo pyrimidine synthesis

Por Rabinovich, Shiran, Adler, Lital, Yizhak, Keren, Sarver, Alona, Silberman, Alon, Agron, Shani, Stettner, Noa, Sun, Qin, Brandis, Alexander, Helbling, Daniel, Korman, Stanley, Itzkovitz, Shalev, Dimmock, David, Ulitsky, Igor, Nagamani, Sandesh CS, Ruppin, Eytan, Erez, Ayelet
Publicado no Nature (2015)

Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

Por Chien, Yin-Hsiu, Abdenur, Jose E., Baronio, Federico, Bannick, Allison Anne, Corrales, Fernando, Couce, Maria, Donner, Markus G., Ficicioglu, Can, Freehauf, Cynthia, Frithiof, Deborah, Gotway, Garrett, Hirabayashi, Koichi, Hofstede, Floris, Hoganson, George, Hwu, Wuh-Liang, James, Philip, Kim, Sook, Korman, Stanley H., Lachmann, Robin, Levy, Harvey, Lindner, Martin, Lykopoulou, Lilia, Mayatepek, Ertan, Muntau, Ania, Okano, Yoshiyuki, Raymond, Kimiyo, Rubio-Gozalbo, Estela, Scholl-Bürgi, Sabine, Schulze, Andreas, Singh, Rani, Stabler, Sally, Stuy, Mary, Thomas, Janet, Wagner, Conrad, Wilson, William G., Wortmann, Saskia, Yamamoto, Shigenori, Pao, Maryland, Blom, Henk J.
Publicado no Orphanet J Rare Dis (2015)