Combined liver–kidney transplant for the management of methylmalonic aciduria: A case report and review of the literature

Por Guire, Peter J. Mc, Lim-Melia, Elizabeth, Diaz, George A., Raymond, Kimiyo, Larkin, Alexandra, Wasserstein, Melissa P., Sansaricq, Claude
Publicado em 2007

Abnormal Newborn Screening Data and Acylcarnitines in HIV/ARV-Exposed Infants

Por Kirmse, Brian, Hobbs, Charlotte V., Peter, Inga, LaPlante, Bryan, Caggana, Michele, Kloke, Karen, Raymond, Kimiyo, Summar, Marshall, Borkowsky, William
Publicado no Pediatr Infect Dis J (2013)

Pregnancy in an Individual with Mild Smith-Lemli-Opitz Syndrome

Por Ellingson, Marissa S., Wick, Myra J., White, Wendy M., Raymond, Kimiyo M., Saenger, Amy K., Pichurin, Pavel N., Wassif, Christopher A., Porter, Forbes D., Babovic-Vuksanovic, Dusica
Publicado em 2013

High-Throughput Immunoassay for the Biochemical Diagnosis of Friedreich Ataxia in Dried Blood Spots and Whole Blood

Por Oglesbee, Devin, Kroll, Charles, Gakh, Oleksandr, Deutsch, Eric C., Lynch, David R., Gavrilova, Ralitza, Tortorelli, Silvia, Raymond, Kimiyo, Gavrilov, Dimitar, Rinaldo, Piero, Matern, Dietrich, Isaya, Grazia
Publicado em 2013

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Por Yang, Amy C., Ng, Bobby G., Moore, Steven A., Rush, Jeffrey, Waechter, Charles J., Raymond, Kimiyo M., Willer, Tobias, Campbell, Kevin P., Freeze, Hudson H., Mehta, Lakshmi
Publicado em 2013

DDOST Mutations Identified by Whole-Exome Sequencing Are Implicated in Congenital Disorders of Glycosylation

Por Jones, Melanie A., Ng, Bobby G., Bhide, Shruti, Chin, Ephrem, Rhodenizer, Devin, He, Ping, Losfeld, Marie-Estelle, He, Miao, Raymond, Kimiyo, Berry, Gerard, Freeze, Hudson H., Hegde, Madhuri R.
Publicado em 2012

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Phosphomannose Isome...

Por Zhang, Wenyue, James, Philip M., Ng, Bobby G., Li, Xueli, Xia, Baoyun, Rong, Jiang, Asif, Ghazia, Raymond, Kimiyo, Jones, Melanie A., Hegde, Madhuri, Ju, Tongzhong, Cummings, Richard D., Clarkson, Katie, Wood, Tim, Boerkoel, Cornelius F., Freeze, Hudson H., He, Miao
Publicado no Clin Chem (2015)

Expanding the molecular and clinical phenotype of SSR4-CDG

Por Ng, Bobby G., Raymond, Kimiyo, Kircher, Martin, Buckingham, Kati J., Wood, Tim, Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Wong, Jonathan T.S., Monteiro, Fabiola Paoli, Graham, Brett H., Jackson, Sheryl, Sparkes, Rebecca, Scheuerle, Angela E., Cathey, Sara, Kok, Fernando, Gibson, James B., Freeze, Hudson H.
Publicado no Hum Mutat (2015)

Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation

Por Ng, Bobby G., Buckingham, Kati J., Raymond, Kimiyo, Kircher, Martin, Turner, Emily H., He, Miao, Smith, Joshua D., Eroshkin, Alexey, Szybowska, Marta, Losfeld, Marie E., Chong, Jessica X., Kozenko, Mariya, Li, Chumei, Patterson, Marc C., Gilbert, Rodney D., Nickerson, Deborah A., Shendure, Jay, Bamshad, Michael J., Freeze, Hudson H.
Publicado em 2013

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Por Jansen, Eric J. R., Timal, Sharita, Ryan, Margret, Ashikov, Angel, van Scherpenzeel, Monique, Graham, Laurie A., Mandel, Hanna, Hoischen, Alexander, Iancu, Theodore C., Raymond, Kimiyo, Steenbergen, Gerry, Gilissen, Christian, Huijben, Karin, van Bakel, Nick H. M., Maeda, Yusuke, Rodenburg, Richard J., Adamowicz, Maciej, Crushell, Ellen, Koenen, Hans, Adams, Darius, Vodopiutz, Julia, Greber-Platzer, Susanne, Müller, Thomas, Dueckers, Gregor, Morava, Eva, Sykut-Cegielska, Jolanta, Martens, Gerard J. M., Wevers, Ron A., Niehues, Tim, Huynen, Martijn A., Veltman, Joris A., Stevens, Tom H., Lefeber, Dirk J.
Publicado no Nat Commun (2016)

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)

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

Por Stray-Pedersen, Asbjørg, Backe, Paul H., Sorte, Hanne S., Mørkrid, Lars, Chokshi, Niti Y., Erichsen, Hans Christian, Gambin, Tomasz, Elgstøen, Katja B.P., Bjørås, Magnar, Wlodarski, Marcin W., Krüger, Marcus, Jhangiani, Shalini N., Muzny, Donna M., Patel, Ankita, Raymond, Kimiyo M., Sasa, Ghadir S., Krance, Robert A., Martinez, Caridad A., Abraham, Shirley M., Speckmann, Carsten, Ehl, Stephan, Hall, Patricia, Forbes, Lisa R., Merckoll, Else, Westvik, Jostein, Nishimura, Gen, Rustad, Cecilie F., Abrahamsen, Tore G., Rønnestad, Arild, Osnes, Liv T., Egeland, Torstein, Rødningen, Olaug K., Beck, Christine R., Boerwinkle, Eric A., Gibbs, Richard A., Lupski, James R., Orange, Jordan S., Lausch, Ekkehart, Hanson, I. Celine
Publicado em 2014

ALG1-CDG: Clinical and molecular characterization of 39 unreported patients

Por Ng, Bobby G., Shiryaev, Sergey A., Rymen, Daisy, Eklund, Erik A., Raymond, Kimiyo, Kircher, Martin, Abdenur, Jose E., Alehan, Fusun, Midro, Alina T., Bamshad, Michael J., Barone, Rita, Berry, Gerard T., Brumbaugh, Jane E., Buckingham, Kati J., Clarkson, Katie, Cole, F. Sessions, O'Connor, Shawn, Cooper, Gregory M., Van Coster, Rudy, Demmer, Laurie A., Diogo, Luisa, Fay, Alexander J., Ficicioglu, Can, Fiumara, Agata, Gahl, William A., Ganetzky, Rebecca, Goel, Himanshu, Harshman, Lyndsay A., He, Miao, Jaeken, Jaak, James, Philip M., Katz, Daniel, Keldermans, Liesbeth, Kibaek, Maria, Kornberg, Andrew J., Lachlan, Katherine, Lam, Christina, Yaplito-Lee, Joy, Nickerson, Deborah A., Peters, Heidi L., Race, Valerie, Régal, Luc, Rush, Jeffrey S., Rutledge, S. Lane, Shendure, Jay, Souche, Erika, Sparks, Susan E., Trapane, Pamela, Sanchez-Valle, Amarilis, Vilain, Eric, Vøllo, Arve, Waechter, Charles J., Wang, Raymond Y., Wolfe, Lynne A., Wong, Derek A., Wood, Tim, Yang, Amy C., Matthijs, Gert, Freeze, Hudson H.
Publicado no Hum Mutat (2016)