Assistant Professor, Laboratory Medicine and Pathology, Mayo Medical School

Pediatrics

Dr. Dimitar K. Gavrilov, MD

Dimitar Gavrilov practices Pediatrics. He researched medicine at Medical University of Sofia FOM. Dimitar Gavrilov is a published MD. He published 20 publications, including: 'Differential SMN2 expression associated with SMA severity.'

Publications

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease.
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.
A macro-enzyme cause of an isolated increase of alkaline phosphatase.
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.
Differential SMN2 expression associated with SMA severity.
Clinical, enzymatic and molecular characterization of nine new patients with malonyl-coenzyme A decarboxylase deficiency.
Homogentisic acid interference in routine urine creatinine determination.
Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
Newborn screening of metabolic disorders: recent progress and future developments.
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.
Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007).
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Doctors Specialties

Clinical Biochemical Genetics
Clinical Genetics
Internal Medicine
Pediatrics

Accepted Insurances

Education

University of Missouri-Columbia
Medical University of Sofia FOM

Hospital

Mayo Clinic - Rochester, Minnesota

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