Laboratory Genetics in Minnesota

Recent Publications of the Biochemical Genetics Laboratory

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

In 2006, members of the BGL co-authored peer-reviewed publications, and presented 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

Boles RG, Rinaldo P. (2006) Glucose concentration in 254 SIDS livers suggests pathophysiological heterogeneity. Ped Dev Pathol 9:86-87.

Conlon TJ, Walter G, Owen R, Cossette T, Erger K, Gutierrez G, Goetzman E, Matern D, Vockley J, Flotte TR. Systemic correction of a fatty acid oxidation defect by intramuscular injection of a recombinant adeno-associated virus vector. Hum Gene Ther 2006 Jan; 17(1):71-80.

Hahn SH, Minnich SJ, O'Brien JF. Stabilization of hypoglycosylation in a patient with congenital disorder of glycosylation type Ia. J Inherit Metab Dis 2006 Feb; 29(1):235-7.

Hubbard WC, Moser AB, Tortorelli S, Liu A, Jones D, Moser H. Combined liquid chromatography-Tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: Preliminary findings. Mol Genet Metab 2006 Sep-Oct; 89(1-2):185-7.

Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Molecular Genetics & Metabolism 2006 Sep-Oct; 89(1-2):134-8.

Magera MJ, Gunawardena ND, Hahn SH, Tortorelli S, Mitchell GA, Goodman SI, Rinaldo P, Matern D. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab 2006 May; 88(1):16-21.

Merritt JL, Matern D, Vockley J, Daniels J, Nguyen TV, Schowalter DB. In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase. Mol Genet Metab 2006 Aug; 88(4):351-8.

Oglesbee D, Freedenberg D, Kramer KA, Anderson BD, Hahn SH. Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis. Pediatr Neurol 2006 Oct; 35(4):289-92.

Pysher TJ, Bach P, Hamilton M, Laposata M, Lockitch G, Brugnara C, Coffin CM, Roberts W, Rutledge J, Ashwood E, Blaylock R, Campos J, Goldsmith B, Lim M, Meikle W, Pasquali M, Perkins S, Perry D, Petty C, Rinaldo P, Rogers B, Steele P, Weiss R, Woods G. (2006) Teaching pediatric laboratory medicine to pathology residents. Arch Pathol Lab Med 130:1031-1038.

Rinaldo P, Zafari S, Tortorelli S, Matern D. Making the case for objective performance metrics in newborn screening by tandem mass spectrometry. Ment Retard Dev Disabil Res Rev 2006; 12(4):255-61.

Struys EA, Verhoeven NM, Jansen EEW, ten Brink HJ, Gupta M, Burlingame TG, Quang LS, Maher T, Rinaldo P, Snead OC, Goodwin AK, Weerts EM, Murphy TC, Picklo MJ, Jakobs C, Gibson KM. (2006) D-2-Hydroxyglutarate: A prominent metabolite of mammalian gamma-hydroxybutyrate metabolism. Metabolism 55:353-358.

Tiranti V, Briem E, FerrariG, Lamantea E, Papaleo E, De Gioia L, Rinaldo P, Ezgü FS, Dickson P, Abu-Libdeh B, Heberle L, Owaidha M, Jack RM, Christensen E, Zeviani M. (2006) ETHE1 mutations are specific to Ethylmalonic Encephalopathy. J Med Genet 43:340-346.

Non-Peer Reviewed Articles

Rinaldo P, Hahn S, Matern D. Inborn errors of amino acid, organic acid, and fatty acid metabolism. In: Burtis CA, Ashwood ER, Bruns DE, editors. Tietz textbook of clinical chemistry and molecular diagnostics. 4th Edition. St. Louis: Elsevier Saunders; 2006. p. 2207-47.

Abstracts and Letters

He M, Rutledge SL, Kelly D, Palmer CA, Murdoch J, Majumder N, Nicolls RD, Matern D, Gibson KM, Vockley J. A new disorder in fatty acide beta-oxidation (Abstract O-15-2). J Inherit Metab Dis 2006 Aug; 29(Suppl 1):56.

Huey JC, Anderson BD, Black MM, Matern D, Hahn SH. Peroxisomal proliferator activated receptor agonists as a potential therapy for mitochondrial respiratory chain complex (RCC) defects (Abstract O-31-5). J Inherit Metab Dis 2006 Aug; 29(Suppl 1):74.

Merritt JL, Berry SA, Bentler K, Hahn SH, Tortorelli S, Rinaldo PR, Matern D. Follow up of C5-hydroxy acylcarnitine (C5OH) elevations detected in newborn screeing (NBS) blood spots (Abstract O-14-2). J Inherit Metab Dis 2006 Aug; 29(Suppl 1):54.

Merritt JL, Nguyen TV, Matern D, Daniels J, Showalter DB. Short-term in vivo correction of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency in the VLCAD knock-out mouse model (Abstract O-15-7). J Inherit Metab Dis 2006 Aug; 29(Suppl 1):57.

Moran R, Oglesbee D, Matern D, Hahn SD, Rinaldo P, Puffenberger E, Tortorelli S. Newborn screening and mild MCAD deficiency: implications for follow up and long term care (Abstract P-5-9). J Inherit Metab Dis 2006 Aug; 29(Suppl 1):114.

Oglesbee D, Gunay-Aygun M, Matern D, Tortorelli S, Hahn SH, Rinaldo P, Ward C, Moran R. A mild Amish variant of propionic acidemia is detectable by newborn screening with tandem mass spectrometry (Abstract WS-4-6). J Inherit Metab Dis 2006 Aug; 29(Suppl 1):20.

Oglesbee D, Lacey JM, Spolar CD, Casetta B, Tortorelli S, Hahn SH, Rinaldo P, Matern D. Newborn screening for MSUD: increased specificity by addition of 2ND-tier assay for alloisoleucine by LC-MS/MS (Abstract O-14-4). J Inherit Metab Dis 2006 Aug; 29(Suppl 1):55.

Book Chapters

Kruisselbrink TM, Lindor NM, O'Brien JF. Human genetic disorders. In: Cheng L, Bostwick DG, editors. Essentials of anatomic pathology. 2nd Edition. Totowa: Humana Press; 2006. p. 37-85.

McConnell, J., Kloke, K. Vitamins and Porphyrins. In: Wu A.H.B., ed. Tietz Clinical Guide to Laboratory Tests, 4th ed., W.B. Saunders 2006: various pages

Rinaldo P, Hahn S, Matern D. Inborn errors of amino acid, organic acid, and fatty acid metabolism. In: Burtis CA, Ashwood ER, Bruns DE, editors. Tietz textbook of clinical chemistry and molecular diagnostics. 4th Edition. St. Louis: Elsevier Saunders; 2006. p. 2207-47.