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JIMD Reports|February 20, 2020
Use of complementary and alternative medicine in patients with inborn errors of metabolism: A single-center studyJessica Tao, C Anthony Rupar, Michael R Miller, et al.
American Journal of Medical Genetics. Part A|June 29, 2010
Amish microcephaly: Long-term survival and biochemical characterizationVictoria Mok Siu, Suzanne Ratko, Asuri N Prasad, et al.
Journal of Investigative Medicine High Impact Case Reports|June 3, 2021
Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 SiblingsCaitlyn Vlasschaert, Adam D McIntyre, Lauren A Thomson, et al.
Frontiers in Neurology|October 4, 2023
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case reportMontaha Almudhry, Asuri N Prasad, C Anthony Rupar, et al.
Orphanet Journal of Rare Diseases|April 18, 2024
The efficacy of Carbamylglutamate impacts the nutritional management of patients with N-Acetylglutamate synthase deficiencyRani H Singh, Marie-Hélène Bourdages, Angela Kurtz, et al.
Molecular Genetics and Metabolism Reports|May 17, 2021
Hyperleucinosis during infections in maple syrup urine disease post liver transplantationLaura Guilder, Carlos E Prada, Sofia Saenz, et al.
Molecular Genetics and Metabolism|January 13, 2026
Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruenceStephanie Newman, Srinitya Gannavarapu, Andrea C Yu, et al.
JIMD Reports|January 19, 2026
Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case SeriesSamuel Quinn Tholl, Wendy McCaul, Anthony Rupar, et al.
Orphanet Journal of Rare Diseases|January 10, 2019
Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: a survey of dietitians' current practicesNataliya Yuskiv, Beth K Potter, Sylvia Stockler, et al.
BMC Pediatrics|January 12, 2024
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiencyRyan Iverson, Monica Taljaard, Michael T Geraghty, et al.
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