Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening
Jackson, David G., Case, Laura E., Huggins, Erin, Holland, Maggie, Blount, Janet, Webb, Lisa Hobson, Kishnani, Priya S.
Published in Molecular genetics and metabolism reports (01.09.2023)
Published in Molecular genetics and metabolism reports (01.09.2023)
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Experience with enzyme replacement therapy in children with late-onset Pompe disease diagnosed via newborn screening in the United States
Huggins, Erin, Nading, Erica, Makhijani, Neelam, Blount, Janet, Holland, Maggie, Case, Laura, Kishnani, Priya
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Longitudinal follow up uncovers an early emerging phenotype in children with late-onset Pompe disease diagnosed via newborn screening
Huggins, Erin, Makhijani, Neelam A., Holland, Maggie, Jones, Harrison, Blount, Janet, Jung, Seung-Hye, Case, Laura, Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Clinical characterization of 20 infants diagnosed with late-onset Pompe disease after positive newborn screening
Huggins, Erin, Holland, Maggie, Austin, Stephanie, Blount, Janet, Cohen, Jennifer L., Case, Laura, Kishnani, Priya
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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eP041 - Clinical characterization of 20 infants diagnosed with late-onset Pompe disease after positive newborn screening
Huggins, Erin, Holland, Maggie, Austin, Stephanie, Blount, Janet, Cohen, Jennifer L., Case, Laura, Kishnani, Priya
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
Huggins, Erin, Holland, Maggie, Case, Laura E., Blount, Janet, Landstrom, Andrew P., Jones, Harrison N., Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.03.2022)
Published in Molecular genetics and metabolism (01.03.2022)
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Journal Article
Early clinical phenotype of late-onset Pompe disease: Lessons learned from newborn screening
Huggins, Erin, Holland, Maggie, Case, Laura E., Blount, Janet, Landstrom, Andrew P., Jones, Harrison N., Kishnani, Priya S.
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Urinary glucose tetrasaccharide correlates with phenotype in Pompe disease in the newborn period
Mendez, Roberto, Bali, Deeksha, Stiles, Ashlee, Zhang, Haoyue, Li, Cindy, Blount, Janet, Rehder, Catherine, Kishnani, Priya, Young, Sarah
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Journal Article
eP017 - Urinary glucose tetrasaccharide correlates with phenotype in Pompe disease in the newborn period
Mendez, Roberto, Bali, Deeksha, Stiles, Ashlee, Zhang, Haoyue, Li, Cindy, Blount, Janet, Rehder, Catherine, Kishnani, Priya, Young, Sarah
Published in Molecular genetics and metabolism (01.04.2021)
Published in Molecular genetics and metabolism (01.04.2021)
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Arteriovenous extracorporeal carbon dioxide removal: a mathematical model and experimental evaluation
Conrad, S A, Brown, E G, Grier, L R, Baier, J, Blount, J, Heming, T, Zwischenberger, J B, Bidani, A
Published in ASAIO journal (1992) (01.07.1998)
Published in ASAIO journal (1992) (01.07.1998)
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