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JIMD Reports|April 13, 2016
Spurious Elevation of Multiple Urine Amino Acids by Ion-Exchange Chromatography in Patients with Prolidase DeficiencyCarlos R Ferreira, Kristina Cusmano-Ozog
Molecular Genetics and Metabolism|July 23, 2018
Tissue acylcarnitine status in a mouse model of mitochondrial β-oxidation deficiency during metabolic decompensation due to influenza virus infectionTatiana N Tarasenko, Kristina Cusmano-Ozog, Peter J McGuire
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|October 11, 2007
22q13.3 deletion syndrome: a recognizable malformation syndrome associated with marked speech and language delayKristina Cusmano-Ozog, Melanie A Manning, H Eugene Hoyme
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2020
Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Marcus J Miller, Kristina Cusmano-Ozog, Devin Oglesbee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 8, 2022
Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG)Erin T Strovel, Kristina Cusmano-Ozog, Tim Wood, et al.
Journal of Investigative Medicine High Impact Case Reports|May 21, 2025
The Clinical and Biochemical Impact of the Multivitamin Shortage on Neonatal PatientsReva Frankel, Courtney Verscaj, Christina G Tise, et al.
Translational Science of Rare Diseases|April 24, 2018
Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunctionDavid B Beck, Kristina Cusmano-Ozog, Nickie Andescavage, et al.
Genetics in Medicine Open|February 13, 2025
College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performanceKristina Cusmano-Ozog, Dietrich Matern, Thomas Long, et al.
Molecular Genetics and Metabolism|October 17, 2017
Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapyAnna I Scott, Kristina Cusmano-Ozog, Gregory M Enns, et al.
Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|December 10, 2013
A rapid, sensitive method for quantitative analysis of underivatized amino acids by liquid chromatography-tandem mass spectrometry (LC-MS/MS)Anthony Le, Angelina Ng, Tony Kwan, et al.
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