Laboratory Genetics in Minnesota

2002 Publications of the Biochemical Genetics Laboratory

Full Publications
Reviews and Chapters

In 2002, members of the BGL have co-authored 28 peer-reviewed publications, and presented more than 50 abstracts at national and international conferences.

Full Publications

Berger PB, McConnell JP, Nunn M, Kornman KS, Sorrell J, Barnett K, Duff GW. C-reactive protein levels are influenced by common IL-1 gene variations. Cytokine 2002 Feb 21;17(4):171-4.

Brilakis ES, McConnell JP, Klee GG, Ballman KV, Berger PB. Lack of association between plasma homocyst(e)ine and angiographic coronary artery disease in the era of folic acid fortified cereal grain flour. Atherosclerosis 2002 Dec;165(2):375-81.

Bruno A, McConnell JP, Mansbach HH, Cohen SN, Tietjen GE, Bang NU. Aspirin and urinary 11-dehydrothromboxane B(2) in African American stroke patients. Stroke 2002 Jan;33(1):57-60.

Buist NR, Dulac O, Bottiglieri T, Gartner J, Rinaldo P, Wolf NI. Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group. J Child Neurol. 2002 Dec;17 S3:3S98-102.

Carlson RJ, Navone A, McConnell JP, Burritt M, Castle MC, Grill D, Jaffe AS Effect of myocardial ischemia on cardiac troponin I and T. Am J Cardiol 2002 Jan 15;89(2):224-6.

Chou JY, Matern D, Mansfield BC, Chen YT. Type I Glycogen storage diseases: Disorders of the glucose-6-phosphatase complex. Curr Mol Med 2002; 2(2):121-143.

Enns GM, Steiner RD, Buist N, Cowan C, Leppig, KA, McCracken MF, Westphal V, Freeze HH, O'Brien JF, Jaeken J, Matthijs G, Behera S, Hudgins L. Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr 2002 Nov;141(5):695-700.

Hahn SH, Lee SY, Jang YJ, Kim SH, Shin HC, Park SY, Han Ha, Yu ES, Yoo HW, Lee JS, Chung CS, Lee SY, Lee DH. Pilot study of mass screening for Wilson's disease in Korea. Mol Genet Metab. 2002 Jun;76(2):133-6.

Harewood GC, McConnell JP, Harrington JJ, Mahoney DW, Ahlquist DA. Detection of occult upper gastrointestinal tract bleeding: performance differences in fecal occult blood tests. Mayo Clin Proc. 2002 Jan;77(1):23-8.

Hintz SR, Matern D, Strauss A, Bennett MJ, Hoyme HE, Schelley S, Kobori J, Colby C, Lehman NL, Enns GM. Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme A dehydrogenase and mitochondrial trifunctional protein deficiencies. Mol Genet Metab 2002; 75(2): 120-127.

Kim SN, Ryu KH, Lee EH, Kim JS, Hahn SH. Molecular analysis of PCCB gene in Korean patients with propionic acidemia. Mol Genet Metab. 2002 Nov; 77(3):209-16.

Klunemann HH, Elleder M, Kaminski WE, Snow K, Peyser JM, O'Brien JF, Munoz D, Schmitz G, Klein HE, Pendlebury WW. Frontal lobe atrophy due to a mutation in the cholesterol binding protein HE1/NPC2. Ann Neurol. 2002 Dec;52(6):743-9.

Kroll CA, Magera MJ, Helgeson JK, Matern D, Rinaldo P: A liquid chromatography-tandem mass spectrometry method for the determination of 5-hydroxyindole-3-acetic acid in urine. Clin Chem 2002; 48:2049-51.

Matern D, Seydewitz HH, Bali D, Lang C, Chen YT. Glycogen storage disease type I: Diagnosis and phenotype/genotype correlation. Eur J Pediatr 2002; 161:S10-S19.

McConnell JP, Branum EL, Lagerstedt SA, Katzmann JA, Jaffe AS. Gender differences in C-reactive protein concentrations-confirmation with two sensitive methods. Clin Chem Lab Med 2002 Jan;40(1):56-9.

Merlini L, Carbone I, Capanni C, Sabatelli P, Tortorelli S, Sotgia F, Lisanti MP, Bruno C, Minetti C. Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. J Neurol Neurosurg Psychiatry. 2002 Jul;73(1):65-7.

Oh WJ, Kim EK, Ko JH, Yoo SH, Hahn SH, Yoo OJ. Nuclear proteins that bind to metal response element a (MREa) in the Wilson disease gene promoter are Ku autoantigens and the Ku-80 subunit is necessary for basal transcription of the WD gene. Eur J Biochem. 2002 Apr; 269(8):2151-61. \

Rajamannan NM, Subramaniam M, Springett M, Sebo T, Niekrasz M, McConnell JP, Singh R, Stone NJ, Bonow RO, Spelsberg TC. Atorvastatin inhibits hypercholesterolemia-induced cellular proliferation and bone matrix production in the rabbit aortic valve. Circulation 2002 Jun 4;105(22):2660-5.

Ryu KH, Kim JS, Lee EH, Kwon IS, Hahn, SH. Amino acid compositions of formulas for children with inherited metabolic disorder. J Kor Acad Pediatr. 2002;45:31-37.

Sinha SK, Martin B, Sargent M, McConnell JP, Bernstein CN. Age at acquisition of Helicobacter pylori in a pediatric Canadian First Nations population. Helicobacter 2002 Apr;7(2):76-85.

Ukleja A, Scolapio JS, McConnell JP, Spivey JR, Dickson RD, Nguyen JH, Steers JL, O'Brien PC. Nutritional assessment of serum and hepatic vitamin A levels in patients with cirrhosis. JPEN J Parenter Enteral Nutr. 2002 May-Jun;26(3):184-8.

Reviews and Chapters

Kruisselbrink T, Lindor N, O'Brien J. Human Genetics Disorders. In : Essentials of Anatomic Pathology. Totowa, NJ: Humana press Inc. 2002:2-1 to 2-47.

Matern D. Tandem mass spectrometry in newborn screening. The Endocrinologist 2002;12: 50-57.

Rinaldo P, Matern D, Bennett MJ. Fatty acid oxidation disorders. Ann Rev Physiol 2002; 64:16.1-26.

Rinaldo P, Matern D. Disorders of fatty acid transport and mitochondrial oxidation. In: Principles and practice of Medical Genetics. Rimoin D, Connor J, Pyeritz R, eds, 4th edition. Churchill Livingstone: London, 2002; pp 2538-2549.

Rinaldo P, Matern D. Biochemical diagnosis of inborn errors of metabolism. In: Rudolph CD, Rudolph AM, Hostetter M, Lister G, Siegel N, eds. Rudolph's Pediatrics, 21st edition, McGraw-Hill, New York, 2002; pp 578-583.

Rinaldo P, Hahn S, Matern D. Disorders of fatty acid oxidation: Implications for liver disease in children and their mothers. In: Suchy FJ, Fitz JG, Maher JJ, eds. Mechanisms of acute & chronic disease, American Association for Study of Liver Disease (Postgraduate Course Syllabus), 2002; pp 151-154.