Laboratory Genetics in Minnesota

2001 Publications of the Biochemical Genetics Laboratory

In 2001, members of the BGL have co-authored 33 peer-reviewed publications, and presented more than 50 abstracts at national and international conferences. These references illustrate the variety, clinical breadth, and continued growth of the areas we have been investigating.

Original Articles

Bergen HR, Lacey JM, Brien JF, Naylor S. On-line step analysis of blood proteins: The transferrin story. Anal Biochem 2001;296:122-129.

Bezman L, Moser AB, Rinaldo P, Watkins PA, Smith KD, Kass NE, Moser HW. Adrenoleukodystrophy: Incidence, new mutation rate and results of extended family screening. Ann Neurol 2001;49:512-517.

Cho KN, Won SY, Lee EH, Yoo OJ, Hahn SH. Correlation between genotype and phenotype in Korean patients with spinal muscular atrophy. Mol Cells 2001;11:21-27.

Collins MT, Chebli C, Jones J, Kushner H, Consugar M, Rinaldo P, Wientroub S, Bianco P, Gehron Robey P. Renal phosphate wasting in fibrous dysplasia is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia. J Bone Miner Res 2001;16:806-13.

Corydon MJ, Vockley G, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, de Jong J, Roe CR, Levy HL, Sewell AC, Matern D, Dasouki M, Gregersen N. Role of common variant alleles in the molecular basis of short-chain acyl-CoA dehydrogenase deficiency. Pediatr Res 2001;49:18-23.

Cox KB, Hamm DA, Millington DS, Matern D, Vockley J, Rinaldo P, Pinkert CA, Rhead WJ, Lindsey JR, Wood PA. Very long-chain acyl-CoA dehydrogenase deficiency is distinct from long-chain acyl-CoA dehydrogenase deficiency in the mouse. Hum Mol Genet 2001;10:2069-2077.

Ford RE, Magera MJ, Kloke K, Chezick P, Fauq AH, McConnell JP. The quantitative measurement of porphobilinogen in urine by stable isotope dilution liquid chromatography-tandem mass spectrometry. Clin Chem 2001;47:1627-1632.

Hahn SH, Yoo OJ, Gahl WA. Effect of metal ions on the stability of metallothionein in the degradation by cellular fractions in vitro. Exp Mol Med 2001;33:32-36.

Hahn S, Cho K, Ryu K, Kim J, Pai K, Kim M, Park H, Yoo OJ. Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis. Mol Genet Metab 2001;73:86-90.

Hahn SH, Lee SY, Jang YJ, Kim SN, Shin HC, Park SY, Kang JH, You ES. Development of a screening kit for early diagnosis and prevention of Wilson's disease. J Kor Acad Pediatr 2001;44:1374-1380.

Hoefner DM, Hodel SD, O'Brien JF, Branum EL, Meissner I, McConnell JP. Evaluation of the Quantimetrix Lipoprint LDL System: Development of a quantitative method from LDL subfractionation. Clin Chem 2001;47:266-274.

Ibdah JA, Paul H, Zhao Y, Binford S, Cline M, Matern D, Bennett MJ, Rinaldo P, Strauss AW. Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death. J Clin Invest 2001;107:1403-1409.

Kao PC, Machaceck DA, Magera MJ, Lacey JM, Rinaldo P. Diagnosis of adrenal dysfunction by liquid chromatography tandem mass spectrometry. Ann Clin Lab Sci 2001;31:199-204.

Lacey JM, Bergen HR, Magera MJ, Naylor S, O'Brien, JF. Rapid determination of transferrin isoforms by immuno affinity liquid chromatography and electrospray mass spectrometry. Clin Chem 2001;47:513-518.

Lagerstedt SA, Hinrichs DR, Batt SM, Magera MJ, Rinaldo P, McConnell JP. Quantitative determination of plasma C8-C26 total fatty acids for the biochemical diagnosis of nutritional and metabolic disorders. Mol Genet Metab 2001;73:38-45.

Magera MJ, Stoor A, Helgeson JK, Matern D, Rinaldo P. Determination of homovanillic acid in urine by stable isotope dilution and electrospray tandem mass spectrometry. Clin Chim Acta 2001;306:35-41.

Mao R, O'Brien JF, Rao S, Schmitt E, Roa B, Feldman GL, Spence WC, Snow K. Identification of a 55bp Deletion in the Glucocerebrosidase Gene in Gaucher Disease. Phenotypic Presentation and Implications for Mutation Detection Assays. Mol Genet Metab 2001;72: 248-253.

McConnell JP, Cheryk LA, Durocher A, Bruno A, Bang NU, Fleck JD, Williams L, Biller J, Meschia JF. Urinary 11-dehydorthromboxane B2 and coagulation activation markers measured within 24 hours of acute ischemic stroke: relation to aspirin use. Neuroscie Letters. 2001;313:88-92.

Miller WL, Wright RS, McGregor CG, McConnell JP, Burritt MF, Jaffe AS. Elevated troponin in patients with amyloid cardiomyopathy. Am J Cardiol 2001;88:813-815.

Sawka AM, Singh RJ, Hiddinga HJ. McConnell JP, Eberhardt N, Caplice NM, and Brien T. Remnant lipoproteins from patients with type III hyperlipoproteinemia increase endothelial secretion of plasminogen activator inhibitor-1. Bioch Biophys Res Comm 2001;285:15-19.

Xiaofeng S, Marks D, Park WD, Wheatley C, Vishwajeet P, O'Brien JF, Kraft DL, Lundquist PA, Patterson M, PaganoRE, Snow K. Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation within a specific domain of NPC1. Am J Hum Genet 2001;68:1361-1372.

Reviews and Chapters

Matern D. Magera MJ. Mass spectrometry methods for metabolic and health assessment. J Nutr 2001;131:1615S-1620S.

OBrien, JF. Selected observations on the evolution of Lysosomology and their therapeutic implications. Lys Stor Dis 2001;1: 33-35.

Rinaldo P. Laboratory diagnosis of inborn errors of metabolism. In: Liver disease in children. Suchy FJ, Sokol RJ, Balistreri WF, eds. 2nd edition. Lippincott, Williams Wilkins: Philadelphia, pp. 171-184, 2001.

Rinaldo P, Studinski A, Matern D. Prenatal diagnosis of disorders of fatty acid transport and mitochondrial oxidation. Prenat Diagn 21:52-54.

Rinaldo P. Disorders of fatty acid transport and mitochondrial oxidation. Sem Liv Dis 2001;21:489-500.

Case Reports

Lee YS, Park SW, Cha BH, Lim BK, Kim JS, Lee WS, Kim DJ, Kim MS, Cho KN, Hahn SH. A case of kinky hair disease. J Kor Child Neurol Soc 2001;9:164-170.

Matern D, Shehata BM, Shekhawat P, Strauss AW, Bennett MJ, Rinaldo P. Placental floor infarction complicating the pregnancy of a fetus with long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency. Mol Genet Metab 2001;72:265-268.

Matern D, Hart P, Murtha AP, Vockley J, Gregersen N, Millington DS, Treem WR. Acute fatty liver of pregnancy associated with short-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr 2001;138:585-588.

Shaw PH, Mancini AJ, McConnell, JP, Brown D, and Kletzel M. Treatment of congenital erythropoietic porphyria in children with allogenic stem cell transplantation: A case repot and review of the literature. Bone Marrow Transplant 2001;27:101-105.

Wood J, Seashore MR, Magera MJ, Rinaldo P, Strauss AW, Friedman A. Retrospective diagnosis of very long chain acyl-CoA dehydrogenase deficiency from an infant's newborn screening card. Pediatrics 2001; 108:e19.

Editorials and Letters

Bennett MJ, Rinaldo P. The metabolic autopsy comes of age. Clin Chem 2001;47:1145-6.

Rinaldo P. The impact of tandem mass spectrometry in Biochemical Genetics. It J.Ped 2001;27:696-697.