The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency

por Huang, Yue, Chang, Richard, Abdenur, Jose E.
Publicado 2022

Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error

por Shafer, Grant J., Abdenur, Jose E., Dhar, Vijay, Mikhael, Michel
Publicado 2023

Primary adrenal insufficiency in two siblings with D-bifunctional protein deficiency

por Chapel-Crespo, Cristel C., Villalba, Ricardo, Wang, Raymond, Boyer, Monica, Chang, Richard, Waterham, Hans R., Abdenur, Jose E.
Publicado 2020

Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor

por Eichwald, Tuany, da Silva, Lucila de Bortoli, Staats Pires, Ananda Christina, Niero, Laís, Schnorrenberger, Erick, Filho, Clovis Colpani, Espíndola, Gisele, Huang, Wei-Lin, Guillemin, Gilles J., Abdenur, José E., Latini, Alexandra
Publicado 2023

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

por Simon, Mariella T., Eftekharian, Shaya S., Ferdinandusse, Sacha, Tang, Sha, Naseri, Take, Reupena, Muagututi'a Sefuiva, McGarvey, Stephen T., Minster, Ryan L., Weeks, Daniel E., Nguyen, Daniel D., Lee, Sansan, Ellsworth, Katarzyna A., Vaz, Frédéric M., Dimmock, David, Pitt, James, Abdenur, Jose E.
Publicado 2020

Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G

por Lee, Angela J., Jones, Karra A., Butterfield, Russell J., Cox, Mary O., Konersman, Chamindra G., Grosmann, Carla, Abdenur, Jose E., Boyer, Monica, Beson, Brent, Wang, Ching, Dowling, James J., Gibbons, Melissa A., Ballard, Alison, Janas, Joanne S., Leshner, Robert T., Donkervoort, Sandra, Bönnemann, Carsten G., Malicki, Denise M., Weiss, Robert B., Moore, Steven A., Mathews, Katherine D.
Publicado 2019

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants

por Pop, Ana, Williams, Monique, Struys, Eduard A., Monné, Magnus, Jansen, Erwin E. W., De Grassi, Anna, Kanhai, Warsha A., Scarcia, Pasquale, Ojeda, Matilde R. Fernandez, Porcelli, Vito, van Dooren, Silvy J. M., Lennertz, Pascal, Nota, Benjamin, Abdenur, Jose E., Coman, David, Das, Anibh Martin, El-Gharbawy, Areeg, Nuoffer, Jean-Marc, Polic, Branka, Santer, René, Weinhold, Natalie, Zuccarelli, Britton, Palmieri, Ferdinando, Palmieri, Luigi, Salomons, Gajja S.
Publicado 2017

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