Oglesbee D - 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: oglesbee d. 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

Automated spectrophotometric analysis of mitochondrial respiratory chain complex enzyme activities in cultured skin fibroblasts.

Kramer KA, Oglesbee D, Hartman SJ, Huey J, Anderson B, Magera MJ, Matern D, Rinaldo P, Robinson BH, Cameron JM, Hahn SH. Kramer KA, et al. Among authors: oglesbee d. Clin Chem. 2005 Nov;51(11):2110-6. doi: 10.1373/clinchem.2005.050146. Epub 2005 Sep 1. Clin Chem. 2005. PMID: 16141288

3

Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.

Oglesbee D, He M, Majumder N, Vockley J, Ahmad A, Angle B, Burton B, Charrow J, Ensenauer R, Ficicioglu CH, Keppen LD, Marsden D, Tortorelli S, Hahn SH, Matern D. Oglesbee D, et al. Genet Med. 2007 Feb;9(2):108-16. doi: 10.1097/gim.0b013e31802f78d6. Genet Med. 2007. PMID: 17304052

4

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. Among authors: oglesbee d. 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

5

Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).

Oglesbee D, Sanders KA, Lacey JM, Magera MJ, Casetta B, Strauss KA, Tortorelli S, Rinaldo P, Matern D. Oglesbee D, et al. Clin Chem. 2008 Mar;54(3):542-9. doi: 10.1373/clinchem.2007.098434. Epub 2008 Jan 4. Clin Chem. 2008. PMID: 18178665

6

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. Among authors: oglesbee d. Clin Chem. 2008 Apr;54(4):657-64. doi: 10.1373/clinchem.2007.101949. Epub 2008 Feb 15. Clin Chem. 2008. PMID: 18281422

7

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. Among authors: oglesbee d. 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

8

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: oglesbee d. 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

9

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. Among authors: oglesbee d. 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

10

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: oglesbee d. Clin Chem. 2010 Nov;56(11):1686-95. doi: 10.1373/clinchem.2010.148957. Epub 2010 Aug 31. Clin Chem. 2010. PMID: 20807894

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