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

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

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

di 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.
Pubblicazione 2002

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

di 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.
Pubblicato in Orphanet J Rare Dis (2015)