Dimitar Gavrilov
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Trypanosoma species research and implications, Neonatal Health and Biochemistry
Most-Cited Works
- → Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project(2011)349 cited
- → Reduction of the false‐positive rate in newborn screening by implementation of MS/MS‐based second‐tier tests: The Mayo Clinic experience (2004–2007)(2007)222 cited
- → Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots(2008)141 cited
- → Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited
- → Precision newborn screening for lysosomal disorders(2017)116 cited
- → Newborn screening for lysosomal storage disorders(2015)106 cited
- → Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease(2015)69 cited
- → Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5years of ACADM sequencing(2010)64 cited
- → Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy(2018)61 cited
- → Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease(2017)55 cited