Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience

por Upadia, Jariya, Noh, Grace, Lefante, John J., Andersson, Hans C.
Publicado 2023

A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies

por Landsverk, Megan L., Zhang, Victor Wei, Wong, Lee-Jun C., Andersson, Hans C.
Publicado 2014

Genotype–phenotype correlation in IARS2‐related diseases: A case report and review of literature

por Upadia, Jariya, Li, Yuwen, Walano, Nicolette, Deputy, Stephen, Gajewski, Kelly, Andersson, Hans C.
Publicado 2022

HSD10 disease in a female: A case report and review of literature

por Upadia, Jariya, Walano, Nicolette, Noh, Grace S., Liu, Jiao, Li, Yuwen, Deputy, Stephen, Elliott, Lindsay T., Wong, Joaquin, Lee, Jennifer A., Caylor, Raymond C., Andersson, Hans C.
Publicado 2021

Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative...

por Mistry, Pramod K., Batista, Julie L., Andersson, Hans C., Balwani, Manisha, Burrow, Thomas Andrew, Charrow, Joel, Kaplan, Paige, Khan, Aneal, Kishnani, Priya S., Kolodny, Edwin H., Rosenbloom, Barry, Scott, C. Ronald, Weinreb, Neal
Publicado 2017

The 2019 US medical genetics workforce: a focus on clinical genetics

por Jenkins, Brittany D., Fischer, Catherine G., Polito, Curt A., Maiese, Deborah R., Keehn, Alisha S., Lyon, Megan, Edick, Mathew J., Taylor, Matthew R. G., Andersson, Hans C., Bodurtha, Joann N., Blitzer, Miriam G., Muenke, Maximilian, Watson, Michael S.
Publicado 2021

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics()

por Adams, Darius, Andersson, Hans C., Bausell, Heather, Crivelly, Kea, Eggerding, Caroline, Lah, Melissa, Lilienstein, Joshua, Lindstrom, Kristin, McNutt, Markey, Ray, Joseph W., Saavedra, Heather, Sacharow, Stephanie, Starin, Danielle, Tiffany-Amaro, Jennifer, Thomas, Janet, Vucko, Erika, Wessenberg, Leah B., Whitehall, Kaleigh
Publicado 2021