Hereditary orotic aciduria identified by newborn screening

por Staretz-Chacham, Orna, Damseh, Nadirah S., Daas, Suha, Abu Salah, Nasser, Anikster, Yair, Barel, Ortal, Dumin, Elena, Fattal-Valevski, Aviva, Falik-Zaccai, Tzipora C., Hershkovitz, Eli, Josefsberg, Sagi, Landau, Yuval, Lerman-Sagie, Tally, Mandel, Hanna, Rock, Rachel, Rostami, Nira, Saraf-Levy, Talya, Shaul Lotan, Nava, Spiegel, Ronen, Tal, Galit, Ulanovsky, Igor, Wilnai, Yael, Korman, Stanley H., Almashanu, Shlomo
Publicado 2023

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 2015