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Molecular Genetics and Metabolism Reports
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August 18, 2025
Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report
Jariya Upadia, Grace Noh, Kea Crivelly, et al.
International Journal of Neonatal Screening
|
December 24, 2025
Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes
Jariya Upadia, Grace Noh, Kea Crivelly, et al.
Molecular Genetics and Metabolism Reports
|
April 22, 2026
Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns
Jariya Upadia, Grace Noh, Kea Crivelly, et al.
JIMD Reports
|
January 13, 2017
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
Grace Stuhrman, Stefanie J Perez Juanazo, Kea Crivelly, et al.
Molecular Genetics and Metabolism Reports
|
March 12, 2024
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect
Jariya Upadia, Kea Crivelly, Grace Noh, et al.
Molecular Genetics and Metabolism
|
November 10, 2016
Autism in patients with propionic acidemia
Peter Witters, Eric Debbold, Kea Crivelly, et al.
Molecular Genetics and Metabolism Reports
|
August 25, 2021
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Darius Adams, Hans C Andersson, Heather Bausell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 16, 2017
Oral D-galactose supplementation in PGM1-CDG
Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 8) with videos related to
Sort By:
Page
of 1
Molecular Genetics and Metabolism Reports
|
August 18, 2025
Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report
Jariya Upadia, Grace Noh, Kea Crivelly, et al.
International Journal of Neonatal Screening
|
December 24, 2025
Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes
Jariya Upadia, Grace Noh, Kea Crivelly, et al.
Molecular Genetics and Metabolism Reports
|
April 22, 2026
Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns
Jariya Upadia, Grace Noh, Kea Crivelly, et al.
JIMD Reports
|
January 13, 2017
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency
Grace Stuhrman, Stefanie J Perez Juanazo, Kea Crivelly, et al.
Molecular Genetics and Metabolism Reports
|
March 12, 2024
Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect
Jariya Upadia, Kea Crivelly, Grace Noh, et al.
Molecular Genetics and Metabolism
|
November 10, 2016
Autism in patients with propionic acidemia
Peter Witters, Eric Debbold, Kea Crivelly, et al.
Molecular Genetics and Metabolism Reports
|
August 25, 2021
Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics
Darius Adams, Hans C Andersson, Heather Bausell, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 16, 2017
Oral D-galactose supplementation in PGM1-CDG
Sunnie Yan-Wai Wong, Therese Gadomski, Monique van Scherpenzeel, et al.
Page
of 1