Laboratory Genetics in Minnesota

Recent Publications of the Biochemical Genetics Laboratory

2006 Publications
2005 Publications
2004 Publications
2003 Publications
2002 Publications
2001 Publications
2000 Publications

In 2007, members of the BGL have co-authored 3 peer-reviewed publications and presented more than 15 abstracts at national and international conferences. These references illustrate the variety, clinical breadth, and continued growth of the areas we have been investigating.

For an up to date list of current publications from this past year, please refer to PubMed, a service provided by the National Library of Medicine.

Peer Reviewed Articles

Babovic-Vuksanovic D, O'Brien JF. Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms. Mol Diagn Ther 2007; 11(5):303-11.

Oglesbee, D., Vockley, J., He, M., Majumder, N., Angles, B., Burton, B., Charrow, J., Ensenauer, R., Ficicioglu, C., Keppen, L. D., Marsden, D., Tortorelli, S., Hahn, S. H., Matern, D., Development of a Newborn Screening Follow Up Algorithm for the Diagnosis of Isobutyryl-CoA Dehydrogenase Deficiency. 2007, Genetics in Medicine, 9, 108-116.

Matern, D., Tortorelli, S., Oglesbee, D., Gavrilov, G., Rinaldo, P. 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, Journal of Inherited Metabolic Disease, 4, 585-592.

Reviews & Chapters

Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, Amat di San Filippo C, Pasquali M, Berry SA, Longo N. Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab 2007; 90: 441-445

Wolfe LA, Finegold DN, Vockley J, Walters N, Matern D, Barshop BA, Cropcho LJ, Gibson KM. Potential misdiagnosis of 3-methylcrotonyl-Coenzyme A carboxylase deficiency associated with absence of urinary 3-methylcrotonylglycine.Pediatrics 2007; 120: e1335-40

Shekhawat PS, Sonne SR, Matern D, Bennett MJ, Boriack R, George V, Xu H, Prasad PD, Roon P, Ganapathy V. Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2/) mice. Mol Genet Metab 2007; 92: 315-24

Oglesbee D. and Rinaldo P. "Laboratory Diagnosis of Inborn Errors of Metabolism." Liver Disease in Children. Eds. Suchy F.J., Sokol R.J., Balistreri W.F. New York, NY. Cambridge University Press. 2007. 531-544.

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Vockley G, Berry GT, Lamhownah AM, Matern D, Roe CR, Gregersen N. Short-chain acyl-CoA dehydrogenase gene mutation (c.319 C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin. Mol Genet Metab 2007; in press

Rinaldo P, Matern D. Disorders of Fatty Acid Transport and Mitochondrial Oxidation. In: Rimoin D.L., Connor J.M., Pyeritz R.E., Korf B.R., eds. Emery and Rimoin's Principles and Practice of Medical Genetics, 5th ed. 2007: 2285-2295

O'Brien JF, Lacey JM, Bergen III HR. Detection of Hypo-N-Glycosylation Using Mass Spectrometry of Transferrin. In: Current Protocols in Human Genetics Wiley Interscience; 2007. p. 17.4.1-17.4.9.

Educational Materials

Oglesbee, D.and Tortorelli, S. "Newborn Screening for a Prevalent Metabolic Defect: an Update on MCAD Deficiency" ASPC Check Sample: Clinical Chemistry. June, 2007.