Publications by authors named "Alice McConnell"

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Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
Itay Tokatly Latzer, Mariarita Bertoldi, Nenad Blau, Melissa L DiBacco, Sarah H Elsea, Alice McConnell

Mol Genet Metab· May 2024

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Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.
Mousumi Bose, Jean-Baptiste Roullet, K Michael Gibson, William B Rizzo, Hana M Mansur, Alice McConnell

J Child Neurol· November 2021

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Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency.
Kirt Martin, Alice McConnell, Sarah H Elsea

J Child Neurol· November 2021

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Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
Madalyn N Brown, Dana C Walters, Michelle A Schmidt, James Hill, Alice McConnell

J Inherit Metab Dis· September 2019

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Succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism: an update on pharmacological and enzyme-replacement therapeutic strategies.
Kara R Vogel, Garrett R Ainslie, Dana C Walters, Alice McConnell, Sameer C Dhamne

J Inherit Metab Dis· July 2018

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