Galactose treatment of a PGM1 patient presenting with restrictive cardiomyopathy

por Donoghue, Sarah E., White, Susan M., Tan, Tiong Yang, Kowalski, Remi, Morava, Eva, Yaplito‐Lee, Joy
Publicado 2020

Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis—A case report and review of literature

por Yaplito‐Lee, Joy, Pai, Gautham, Hardikar, Winita, Hong, Kai M., Pitt, James, Marum, Justine, Amor, David J.
Publicado 2020

Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease

por Bursle, Carolyn, Yiu, Eppie M., Yeung, Alison, Freeman, Jeremy L., Stutterd, Chloe, Leventer, Richard J., Vanderver, Adeline, Yaplito‐Lee, Joy
Publicado 2019

Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review

por Heath, Oliver, Pandithan, Dinusha, Pitt, James, Savva, Elena, Raiti, Laura, Bracken, Jenny, Vandeleur, Moya, Delatycki, Martin B., Yaplito‐Lee, Joy, Hardikar, Winita, Halligan, Rebecca
Publicado 2023

Neuronal ceroid lipofuscinosis type 2: an Australian case series

por 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
Publicado 2020

SURF1 deficiency: a multi-centre natural history study

por 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
Publicado 2013