Canlyniadau Chwilio - Yaplito‐Lee, Joy

Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy gan Donoghue, Sarah E., White, Susan M., Tan, Tiong Yang, Kowalski, Remi, Morava, Eva, Yaplito‐Lee, Joy

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Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature gan Yaplito‐Lee, Joy, Pai, Gautham, Hardikar, Winita, Hong, Kai M., Pitt, James, Marum, Justine, Amor, David J.

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Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease gan Bursle, Carolyn, Yiu, Eppie M., Yeung, Alison, Freeman, Jeremy L., Stutterd, Chloe, Leventer, Richard J., Vanderver, Adeline, Yaplito‐Lee, Joy

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Neuronal ceroid lipofuscinosis type 2: an Australian case series gan Johnson, Alexandra M, Mandelstam, Simone, Andrews, Ian, Boysen, Katja, Yaplito‐Lee, Joy, Fietz, Michael, Nagarajan, Lakshmi, Rodriguez‐Casero, Victoria, Ryan, Monique M, Smith, Nicholas, Scheffer, Ingrid E, Ellaway, Carolyn

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SURF1 deficiency: a multi-centre natural history study gan Wedatilake, Yehani, Brown, Ruth M, McFarland, Robert, Yaplito-Lee, Joy, Morris, Andrew A M, Champion, Mike, Jardine, Phillip E, Clarke, Antonia, Thorburn, David R, Taylor, Robert W, Land, John M, Forrest, Katharine, Dobbie, Angus, Simmons, Louise, Aasheim, Erlend T, Ketteridge, David, Hanrahan, Donncha, Chakrapani, Anupam, Brown, Garry K, Rahman, Shamima

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Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood gan van Karnebeek, Clara D., Sly, William S., Ross, Colin J., Salvarinova, Ramona, Yaplito-Lee, Joy, Santra, Saikat, Shyr, Casper, Horvath, Gabriella A., Eydoux, Patrice, Lehman, Anna M., Bernard, Virginie, Newlove, Theresa, Ukpeh, Henry, Chakrapani, Anupam, Preece, Mary Anne, Ball, Sarah, Pitt, James, Vallance, Hilary D., Coulter-Mackie, Marion, Nguyen, Hien, Zhang, Lin-Hua, Bhavsar, Amit P., Sinclair, Graham, Waheed, Abdul, Wasserman, Wyeth W., Stockler-Ipsiroglu, Sylvia

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De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea gan Xia, Fan, Bainbridge, Matthew N., Tan, Tiong Yang, Wangler, Michael F., Scheuerle, Angela E., Zackai, Elaine H., Harr, Margaret H., Sutton, V. Reid, Nalam, Roopa L., Zhu, Wenmiao, Nash, Margot, Ryan, Monique M., Yaplito-Lee, Joy, Hunter, Jill V., Deardorff, Matthew A., Penney, Samantha J., Beaudet, Arthur L., Plon, Sharon E., Boerwinkle, Eric A., Lupski, James R., Eng, Christine M., Muzny, Donna M., Yang, Yaping, Gibbs, Richard A.

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CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder gan Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom, Tim M., Meitinger, Thomas, Rubio-Gozalbo, M. Estela, Chrusciel, Elzbieta, Distelmaier, Felix, Golzio, Christelle, Jansen, Joop H., van Karnebeek, Clara, Lillquist, Yolanda, Lücke, Thomas, Õunap, Katrin, Zordania, Riina, Yaplito-Lee, Joy, van Bokhoven, Hans, Spelbrink, Johannes N., Vaz, Frédéric M., Pras-Raves, Mia, Ploski, Rafal, Pronicka, Ewa, Klein, Christine, Willemsen, Michel A.A.P., de Brouwer, Arjan P.M., Prokisch, Holger, Katsanis, Nicholas, Wevers, Ron A.

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

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