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Molecular Genetics and Metabolism Reports|July 5, 2022
A neonate with ornithine aminotransferase deficiency; insights on the hyperammonemia-associated biochemical phenotype of gyrate atrophyAneta Kaczmarczyk, Mark Baker, Julianna Diddle, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|August 10, 2016
Electroclinical phenotypes and outcomes in TBC1D24-related epilepsyBrian Appavu, Natalie Guido-Estrada, Kristin Lindstrom, et al.
Frontiers in Immunology|June 9, 2020
Immune Modulation for Enzyme Replacement Therapy in A Female Patient With Hunter SyndromeDaniel C Julien, Kara Woolgar, Laura Pollard, et al.
BMC Endocrine Disorders|November 14, 2018
Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insightsAna Maria Martins, Kristin Lindstrom, Sandra Obikawa Kyosen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 24, 2025
Long-term management strategies for pegvaliase use in phenylketonuria: Lessons learned from the phase-3 PRISM open-label extension studyCary O Harding, Kaleigh Bulloch Whitehall, Joshua Lilienstein, et al.
Molecular Genetics and Metabolism|December 23, 2015
Low bone mineral density is a common finding in patients with homocystinuriaDavid R Weber, Curtis Coughlin, Jill L Brodsky, et al.
Molecular Genetics and Metabolism|January 7, 2024
Evaluating change in diet with pegvaliase treatment in adults with phenylketonuria: Analysis of phase 3 clinical trial dataFran Rohr, Barbara Burton, Anne Dee, et al.
Molecular Genetics and Metabolism|February 28, 2026
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approachAlvaro Hermida Ameijeiras, Erika Vucko, Cary O Harding, et al.
Molecular Genetics and Metabolism Reports|September 30, 2022
Real-world treatment, dosing, and discontinuation patterns among patients treated with pegvaliase for phenylketonuria: Evidence from dispensing dataMelissa Lah, Keziah Cook, Dumingu Aparna Gomes, et al.
The Journal of Biological Chemistry|April 30, 2016
A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem DysfunctionQing Shao, Kristin Lindstrom, Ruoyang Shi, et al.
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