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Molecular Genetics and Metabolism|February 22, 2002
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficienciesSusan R Hintz, Dietrich Matern, Arnold Strauss, et al.Proceedings of the National Academy of Sciences of the United States of America|April 7, 2011
High-quality DNA sequence capture of 524 disease candidate genesPeidong Shen, Wenyi Wang, Sujatha Krishnakumar, et al.JIMD Reports|February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsHossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 14, 2018
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemiaGang Peng, Peidong Shen, Neeru Gandotra, et al.Plos Computational Biology|April 25, 2009
Mapping gene associations in human mitochondria using clinical disease phenotypesCurt Scharfe, Henry Horng-Shing Lu, Jutta K Neuenburg, et al.The Journal of Pediatrics|March 16, 2015
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantationAnna-Kaisa Niemi, Irene K Kim, Casey E Krueger, et al.Journal of Inherited Metabolic Disease|August 5, 2016
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteineNatalia Gomez-Ospina, Anna I Scott, Gia J Oh, et al.American Journal of Medical Genetics. Part A|October 20, 2021
Variable clinical severity in TANGO2 deficiency: Case series and literature reviewJennifer Schymick, Peter Leahy, Tina Cowan, et al.Molecular Genetics and Metabolism|August 11, 2019
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity frameworkJennifer L McGlaughon, Marzia Pasquali, Kathleen Wallace, et al.American Journal of Medical Genetics. Part A|March 8, 2023
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotypeChristina G Tise, Courtney P Verscaj, Bryce A Mendelsohn, et al.Pageof 14