Search Results - "Crivelly, Kea"

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect by Upadia, Jariya, Crivelly, Kea, Noh, Grace, Cunningham, Amy, Cerminaro, Caroline, Li, Yuwen, Mckoin, Meredith, Chenevert, Madeline, Andersson, Hans C.

“…Inherited phenylalanine hydroxylase deficiency, also known as phenylketonuria (PKU), causes poor growth and neurologic deficits in the untreated state. After…”
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Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics by 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

“…To present a case series that illustrates real-world use of pegvaliase based on the initial experiences of US healthcare providers. Sixteen healthcare…”
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Autism in patients with propionic acidemia by Witters, Peter, Debbold, Eric, Crivelly, Kea, Vande Kerckhove, Kristel, Corthouts, Karen, Debbold, Brett, Andersson, Hans, Vannieuwenborg, Lena, Geuens, Sam, Baumgartner, Matthias, Kozicz, Tamas, Settles, Lisa, Morava, Eva

“…Certain inborn errors of metabolism have been suggested to increase the risk of autistic behavior. In an animal model, propionic acid ingestion triggered…”
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Oral D-galactose supplementation in PGM1-CDG by Wong, Sunnie Yan-Wai, Gadomski, Therese, van Scherpenzeel, Monique, Honzik, Tomas, Hansikova, Hana, Holmefjord, Katja S Brocke, Mork, Marit, Bowling, Francis, Sykut-Cegielska, Jolanta, Koch, Dieter, Hertecant, Jozef, Preston, Graeme, Jaeken, Jaak, Peeters, Nicole, Perez, Stefanie, Nguyen, David Do, Crivelly, Kea, Emmerzaal, Tim, Gibson, K Michael, Raymond, Kimiyo, Abu Bakar, Nurulamin, Foulquier, Francois, Poschet, Gernot, Ackermann, Amanda M, He, Miao, Lefeber, Dirk J, Thiel, Christian, Kozicz, Tamas, Morava, Eva

“…Purpose Phosphoglucomutase-1 deficiency is a subtype of congenital disorders of glycosylation (PGM1-CDG). Previous casereports in PGM1-CDG patients receiving…”
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False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency by Stuhrman, Grace, Perez Juanazo, Stefanie J., Crivelly, Kea, Smith, Jennifer, Andersson, Hans, Morava, Eva

“…Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler…”
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