Bull's eye maculopathy and subfoveal deposition in two mucopolysaccharidosis type I patients on long-term enzyme replacement therapy

por Mack, Heather G., Symons, R.C. Andrew, de Jong, Gerard
Publicado 2017

Impact of the COVID-19 pandemic on travel behavior in Istanbul: A panel data analysis

por Shakibaei, Shahin, de Jong, Gerard C., Alpkökin, Pelin, Rashidi, Taha H.
Publicado 2021

Psychiatric and Cognitive Aspects of Phenylketonuria: The Limitations of Diet and Promise of New Treatments

por Ashe, Killian, Kelso, Wendy, Farrand, Sarah, Panetta, Julie, Fazio, Tim, De Jong, Gerard, Walterfang, Mark
Publicado 2019

OCD symptoms in succinic semialdehyde dehydrogenase (SSADH) deficiency: a case report

por Phakey, Sachin, Rego, Thomas, Gaillard, Frank, Panetta, Julie, Evans, Andrew, De Jong, Gerard, Walterfang, Mark
Publicado 2020

Mitochondrial disease: an uncommon but important cause of diabetes mellitus

por Yee, Ming Li, Wong, Rosemary, Datta, Mineesh, Fazio, Timothy Nicholas, Mohammad Ebrahim, Mina, Mcnamara, Elissa Claire, De Jong, Gerard, Gilfillan, Christopher
Publicado 2018

A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency

por Hertzog, Ashley, Selvanathan, Arthavan, Halligan, Rebecca, Fazio, Timothy, de Jong, Gerard, Bratkovic, Drago, Bhattacharya, Kaustuv, Tolun, Adviye Ayper, Bennetts, Bruce, Fisk, Katrina
Publicado 2022

The effect of improved dietary control on cognitive and psychiatric functioning in adults with phenylketonuria: the ReDAPT study

por Burgess, Nicholas M., Kelso, Wendy, Malpas, Charles B., Winton-Brown, Toby, Fazio, Timothy, Panetta, Julie, De Jong, Gerard, Neath, Joanna, Atherton, Sonny, Velakoulis, Dennis, Walterfang, Mark
Publicado 2021