Publications by authors named "Dimitar Gavrilov"

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Clinical utility of untargeted urine oligosaccharide screening.
Gisele Bentz Pino, Marie A Quade, Matthew J Schultz, Amy L White, Dawn S Peck, Dimitar K Gavrilov

Mol Genet Metab· December 2025

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Urine Sorbitol and Xylitol for the Diagnosis of Sorbitol Dehydrogenase Deficiency-Related Neuropathy.
Jordan Elliott Bontrager, Amy L White, Karlla W Brigatti, William Laxen, Perry R Loken, Dimitar K Gavrilov

Neurology· December 2025

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Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches.
Matthew J Schultz, Patricia L Hall, Gisele Bentz Pino, Amy L White, Dawn S Peck, Dimitar Gavrilov

J Inherit Metab Dis· November 2025

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Reduction of false-positive results with biochemical second-tier testing for newborn screening of Pompe disease.
Ibrahim T Khoja, Dawn S Peck, Dimitar K Gavrilov, Molly A McPheron, Devin Oglesbee

Genet Med· October 2025

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Two-tiered newborn screening for infantile Krabbe disease allows timely treatment initiation and avoids false-positive results.
Patricia L Hall, Amy L White, Dawn Peck, Gisele Pino, April Studinski, Dimitar Gavrilov

Genet Med· August 2025

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Sensitivity of transferrin isoform analysis for PMM2-CDG.
Patrica L Hall, Kris Liedke, Coleman Turgeon, Amy White, Gesele Bentz Pino, Dimitar Gavrilov

Mol Genet Metab· October 2024

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Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase.
Coleman Turgeon, Kari Casas, Ryan Flanagan, Amy White, Dawn Peck, Dimitar Gavrilov

Mol Genet Metab Rep· September 2024

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SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Karen Sanders, Dawn Peck, Gisele Bentz Pino, April Studinski Jones, Amy White, Dimitar Gavrilov

Mol Genet Metab· May 2024

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A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.
Peter J Wegwerth, Amy L White, Stephanie D Stoway, Perry R Loken, Devin Oglesbee, Dimitar K Gavrilov

J Inherit Metab Dis· November 2023

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A new D-galactose treatment monitoring index for PGM1-CDG.
Ester Perales-Clemente, Kristen Liedtke, April Studinski, Silvia Radenkovic, Dimitar Gavrilov

J Inherit Metab Dis· September 2021

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The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses.
Adam J Guenzel, Patricia L Hall, Anna I Scott, Christina Lam, Irene J Chang, Dimitar K Gavrilov

JIMD Rep· July 2021

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Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Sheri A Poskanzer, Matthew J Schultz, Coleman T Turgeon, Noemi Vidal-Folch, Kris Liedtke, Dimitar K Gavrilov

Am J Med Genet A· January 2021

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Laboratory monitoring of patients with hereditary tyrosinemia type I.
Matthew J Schultz, Brian C Netzel, Rani H Singh, Gisele B Pino, Dimitar K Gavrilov

Mol Genet Metab· August 2020

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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Adam J Guenzel, Coleman T Turgeon, Kim K Nickander, Amy L White, Dawn S Peck, Dimitar K Gavrilov

Genet Med· June 2020

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Pyridoxine Responsiveness in a Type 1 Primary Hyperoxaluria Patient With a Rare (Atypical) Gene Mutation.
Prince Singh, Fouad T Chebib, Andrea G Cogal, Dimitar K Gavrilov, Peter C Harris

Kidney Int Rep· June 2020

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Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
Aashish N Adhikari, Robert J Currier, Hao Tang, Coleman T Turgeon, Robert L Nussbaum, Dimitar Gavrilov

Int J Neonatal Screen· June 2020

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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Karen A Sanders, Dimitar K Gavrilov, Devin Oglesbee, Kimiyo M Raymond, Silvia Tortorelli

Int J Neonatal Screen· June 2020

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The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism.
Dimitar K Gavrilov, Amy L Piazza, Gisele Pino, Coleman Turgeon, Dietrich Matern

Int J Neonatal Screen· June 2020

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Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients.
Cristel Chapel-Crespo, Dimitar Gavrilov, Mary Sowa, Jessica Myers, Debra-Lynn Day-Salvatore

Mol Genet Metab· April 2020

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Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Dawn S Peck, Jean M Lacey, Amy L White, Gisele Pino, April L Studinski, Dimitar Gavrilov

Int J Neonatal Screen· March 2020

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Multiplex testing for the screening of lysosomal storage disease in urine: Sulfatides and glycosaminoglycan profiles in 40 cases of sulfatiduria.
Gisele Pino, Erin Conboy, Silvia Tortorelli, Sara Minnich, Kim Nickander, Dimitar Gavrilov

Mol Genet Metab· February 2020

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Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy.
Noemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli

Clin Chem· December 2018

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Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
Silvia Tortorelli, Jason S Eckerman, Joseph J Orsini, Colleen Stevens, Jeremy Hart, Dimitar Gavrilov

Genet Med· August 2018

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Precision newborn screening for lysosomal disorders.
Melissa M Minter Baerg, Stephanie D Stoway, Jeremy Hart, Lea Mott, Dawn S Peck, Dimitar Gavrilov

Genet Med· August 2018

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Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
Ramanath Majumdar, Andrew Yori, Peggy W Rush, Kimiyo Raymond, Dimitar Gavrilov

Mol Genet Genomic Med· November 2017

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