Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience
Upadia, Jariya, Noh, Grace, Lefante, John J., Andersson, Hans C.
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
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Journal Article
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect
Upadia, Jariya, Crivelly, Kea, Noh, Grace, Cunningham, Amy, Cerminaro, Caroline, Li, Yuwen, Mckoin, Meredith, Chenevert, Madeline, Andersson, Hans C.
Published in Molecular genetics and metabolism reports (01.03.2024)
Published in Molecular genetics and metabolism reports (01.03.2024)
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Journal Article
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
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
Published in Molecular genetics and metabolism reports (01.09.2021)
Published in Molecular genetics and metabolism reports (01.09.2021)
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Journal Article
HSD10 disease in a female: A case report and review of literature
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.
Published in JIMD reports (01.11.2021)
Published in JIMD reports (01.11.2021)
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Journal Article
Newborn Screening: A National Snapshot with Implications for Emergency Preparedness
Floyd-Browning, Phaidra, RN, Perry, William, Andersson, Hans C., MD
Published in The Journal of pediatrics (01.05.2013)
Published in The Journal of pediatrics (01.05.2013)
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Journal Article
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
Vockley, Jerry, Andersson, Hans C, Antshel, Kevin M, Braverman, Nancy E, Burton, Barbara K, Frazier, Dianne M, Mitchell, John, Smith, Wendy E, Thompson, Barry H, Berry, Susan A
Published in Genetics in medicine (01.02.2014)
Published in Genetics in medicine (01.02.2014)
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Journal Article
The 2019 US medical genetics workforce: a focus on clinical genetics
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.
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Journal Article
Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females
Bier, Caide, Dickey, Kaelin, Bibb, Brittan, Crutcher, Angela, Sponberg, Rebecca, Chang, Richard, Boyer, Monica, Davis-Keppen, Laura, Matthes, Cindy, Tharp, Michelle, Vice, Danielle, Cooney, Erin, Morand, Megan, Ray, Joseph, Lah, Melissa, McNutt, Markey, Andersson, Hans C.
Published in Molecular genetics and metabolism (01.03.2024)
Published in Molecular genetics and metabolism (01.03.2024)
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Journal Article
Stippled Chondral Calcifications of the Patella in Zellweger Syndrome
Rife, Eileen, Dunbar, Alston E., Nelson, Stephen L., Andersson, Hans C.
Published in The Journal of pediatrics (01.01.2018)
Published in The Journal of pediatrics (01.01.2018)
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Journal Article