Teaching NeuroImages: Neuroimaging Findings in Inosine Triphosphate Pyrophosphohydrolase Deficiency

nork Muthusamy, Karthik, Boyer, Suzanne, Patterson, Marc, Bierau, Jorgen, Wortmann, Saskia, Morava, Eva
Argitaratua izan da Neurology (2021)

L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency

nork Soler-Alfonso, Claudia, Pillai, Nishita, Cooney, Erin, Mysore, Krupa R., Boyer, Suzanne, Scaglia, Fernando
Argitaratua izan da Mol Genet Metab Rep (2019)

PMM2‐CDG caused by uniparental disomy: Case report and literature review

nork Vaes, Laurien, Tiller, George E., Pérez, Belén, Boyer, Suzanne W., Berry, Susan A., Sarafoglou, Kyriakie, Morava, Eva
Argitaratua izan da JIMD Rep (2020)

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follo...

nork Starosta, Rodrigo Tzovenos, Boyer, Suzanne, Tahata, Shawn, Raymond, Kimiyo, Lee, Hee Eun, Wolfe, Lynne A., Lam, Christina, Edmondson, Andrew C., Schwartz, Ida Vanessa Doederlein, Morava, Eva
Argitaratua izan da Orphanet J Rare Dis (2021)