Gavrilov DK - Search Results

1

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.

Guenzel AJ, Turgeon CT, Nickander KK, White AL, Peck DS, Pino GB, Studinski AL, Prasad VK, Kurtzberg J, Escolar ML, Lasio MLD, Pellegrino JE, Sakonju A, Hickey RE, Shallow NM, Ream MA, Orsini JJ, Gelb MH, Raymond K, Gavrilov DK, Oglesbee D, Rinaldo P, Tortorelli S, Matern D. Guenzel AJ, et al. Among authors: gavrilov dk. Genet Med. 2020 Jun;22(6):1108-1118. doi: 10.1038/s41436-020-0764-y. Epub 2020 Feb 24. Genet Med. 2020. PMID: 32089546 Free article.

2

Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007).

Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P. Matern D, et al. J Inherit Metab Dis. 2007 Aug;30(4):585-92. doi: 10.1007/s10545-007-0691-y. Epub 2007 Jul 23. J Inherit Metab Dis. 2007. PMID: 17643193

3

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

Turgeon C, Magera MJ, Allard P, Tortorelli S, Gavrilov D, Oglesbee D, Raymond K, Rinaldo P, Matern D. Turgeon C, et al. Clin Chem. 2008 Apr;54(4):657-64. doi: 10.1373/clinchem.2007.101949. Epub 2008 Feb 15. Clin Chem. 2008. PMID: 18281422

4

Newborn screening of metabolic disorders: recent progress and future developments.

Rinaldo P, Lim JS, Tortorelli S, Gavrilov D, Matern D. Rinaldo P, et al. Nestle Nutr Workshop Ser Pediatr Program. 2008;62:81-93; discussion 93-6. doi: 10.1159/000146253. Nestle Nutr Workshop Ser Pediatr Program. 2008. PMID: 18626194 Review.

5

Essential fatty acid profiling for routine nutritional assessment unmasks adrenoleukodystrophy in an infant with isovaleric acidaemia.

Bonilla Guerrero R, Wolfe LA, Payne N, Tortorelli S, Matern D, Rinaldo P, Gavrilov D, Melan M, He M, Steinberg SJ, Raymond GV, Vockley J, Gibson KM. Bonilla Guerrero R, et al. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S453-6. doi: 10.1007/s10545-008-1039-y. Epub 2008 Dec 16. J Inherit Metab Dis. 2008. PMID: 19089597

6

Homogentisic acid interference in routine urine creatinine determination.

Loken PR, Magera MJ, Introne W, Tortorelli S, Gavrilov D, Oglesbee D, Rinaldo P, Matern D, Raymond K. Loken PR, et al. Mol Genet Metab. 2010 May;100(1):103-4. doi: 10.1016/j.ymgme.2010.01.006. Epub 2010 Jan 21. Mol Genet Metab. 2010. PMID: 20138792

7

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.

Tortorelli S, Turgeon CT, Lim JS, Baumgart S, Day-Salvatore DL, Abdenur J, Bernstein JA, Lorey F, Lichter-Konecki U, Oglesbee D, Raymond K, Matern D, Schimmenti L, Rinaldo P, Gavrilov DK. Tortorelli S, et al. Among authors: gavrilov dk. J Pediatr. 2010 Aug;157(2):271-5. doi: 10.1016/j.jpeds.2010.02.027. Epub 2010 Apr 14. J Pediatr. 2010. PMID: 20394947

8

Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.

Smith EH, Thomas C, McHugh D, Gavrilov D, Raymond K, Rinaldo P, Tortorelli S, Matern D, Highsmith WE, Oglesbee D. Smith EH, et al. Mol Genet Metab. 2010 Jul;100(3):241-50. doi: 10.1016/j.ymgme.2010.04.001. Epub 2010 Apr 8. Mol Genet Metab. 2010. PMID: 20434380

9

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.

Turgeon CT, Magera MJ, Cuthbert CD, Loken PR, Gavrilov DK, Tortorelli S, Raymond KM, Oglesbee D, Rinaldo P, Matern D. Turgeon CT, et al. Among authors: gavrilov dk. Clin Chem. 2010 Nov;56(11):1686-95. doi: 10.1373/clinchem.2010.148957. Epub 2010 Aug 31. Clin Chem. 2010. PMID: 20807894

10

An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.

Smith EH, Gavrilov DK, Oglesbee D, Freeman WD, Vavra MW, Matern D, Tortorelli S. Smith EH, et al. Among authors: gavrilov dk. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6. Epub 2010 Sep 4. J Inherit Metab Dis. 2010. PMID: 20821052

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