Experience with the Urinary Tetrasaccharide Metabolite for Pompe Disease in the Diagnostic Laboratory

por Saville, Jennifer T., Fuller, Maria
Publicado 2021

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA

por Chin, Sharon J., Saville, Jennifer T., McDermott, Belinda K., Zankl, Andreas, Fletcher, Janice M., Fuller, Maria
Publicado 2020

Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation

por Blumenreich, Shani, Nehushtan, Tamar, Barav, Or B., Saville, Jennifer T., Dingjan, Tamir, Hardy, John, Fuller, Maria, Futerman, Anthony H.
Publicado 2022

Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells

por Lehmann, Rebecca J., Jolly, Lachlan A., Johnson, Brett V., Lord, Megan S., Kim, Ha Na, Saville, Jennifer T., Fuller, Maria, Byers, Sharon, Derrick-Roberts, Ainslie L.K.
Publicado 2021

The long and the short of Huntington’s disease: how the sphingolipid profile is shifted in the caudate of advanced clinical cases

por Phillips, Gabrielle R., Saville, Jennifer T., Hancock, Sarah E., Brown, Simon H. J., Jenner, Andrew M., McLean, Catriona, Fuller, Maria, Newell, Kelly A., Mitchell, Todd W.
Publicado 2021

Spinal muscular atrophy-like phenotype in a mouse model of acid ceramidase deficiency

por Nagree, Murtaza S., Rybova, Jitka, Kleynerman, Annie, Ahrenhoerster, Carissa J., Saville, Jennifer T., Xu, TianMeng, Bachochin, Maxwell, McKillop, William M., Lawlor, Michael W., Pshezhetsky, Alexey V., Isaeva, Olena, Budde, Matthew D., Fuller, Maria, Medin, Jeffrey A.
Publicado 2023

Maternal overnutrition by hypercaloric diets programs hypothalamic mitochondrial fusion and metabolic dysfunction in rat male offspring

por Cardenas-Perez, Robbi E., Fuentes-Mera, Lizeth, de la Garza, Ana Laura, Torre-Villalvazo, Ivan, Reyes-Castro, Luis A., Rodriguez-Rocha, Humberto, Garcia-Garcia, Aracely, Corona-Castillo, Juan Carlos, Tovar, Armando R., Zambrano, Elena, Ortiz-Lopez, Rocio, Saville, Jennifer, Fuller, Maria, Camacho, Alberto
Publicado 2018

GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals

por ter Huurne, Menno, Parker, Benjamin L., Liu, Ning Qing, Qian, Elizabeth Ling, Vivien, Celine, Karavendzas, Kathy, Mills, Richard J., Saville, Jennifer T., Abu-Bonsrah, Dad, Wise, Andrea F., Hudson, James E., Talbot, Andrew S., Finn, Patrick F., Martini, Paolo G.V., Fuller, Maria, Ricardo, Sharon D., Watt, Kevin I., Nicholls, Kathy M., Porrello, Enzo R., Elliott, David A.
Publicado 2023