Laboratory Genetics in Minnesota

2000 Publications of the Biochemical Genetics Laboratory

Original Articles

Fujii K, Matsubara Y, Jun Akanuma J, Takahashi K, KureS, Suzuki Y, Imaizumi M, Iinuma K, Sakatsume O, Rinaldo P, Narisawa K. (2000) Mutation detection by TaqMan-allele specific amplification: application to molecular diagnosis of glycogen storage disease type Ia and medium-chain acyl-CoA dehydrogenase deficiency. Human Mutation 15:189-196.

Gibson KM, Terry G. Burlingame TG, Hogema B, Jakobs C, Schutgens RBH, Millington D, Roe CR, Roe DS, Sweetman L, Steiner RD, Linck L, Pohowalla P, Kiss D, Sacks M, Rinaldo P, Vockley J. (2000) 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res 47:830-833.

Jones PM, Quinn R, Fennessey P, Tjoa S, Goodman SI, Fiore S, Burlina AB, Rinaldo P, Bennett MJ. (2000) An improved method for measuring serum or plasma free 3-hydroxy-fatty acids using stable isotope dilution gas chromatography-mass spectrometry and its utility for the study of disorders of mitochondrial fatty acid-oxidation. Clin Chem 46:149-155.

Magera MJ, Helgeson JK, Matern D, Rinaldo P. Method for the determination of methylmalonic acid in plasma and urine by stable isotope dilution and electrospray tandem mass spectrometry. Clin Chem 2000;46:1804-1810.

Rinaldo P, Matern D. Disorders of fatty acid transport and mitochondrial oxidation: Challenges and dilemmas of metabolic evaluation. Genet Med 2000;2:338-344.

Seydewitz H.H., Matern D. Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations. Hum Mutat (Online) 2000; 15:115-6.

Shen J.-J., Matern D., Millington D., Hillman S., Qumsiyeh M., Feezor M., Kahler S., Chen Y.-T., van Hove J.L.K. Acylcarnitines produced by cultured fibroblasts of patients with long-chain 3-hydroxyacyl CoA dehydrogenase deficiency and other disorders of fatty acid oxidation. J Inher Metab Dis 2000; 23:27-44.

Van Hove J.L.K, Kahler S.G., Feezor M.D., Ramakrishna J.P., Hart P., Treem W.R., Shen J.-J., Matern D., D.S. Millington: Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacylcoenzyme A dehydrogenase deficiency. J Inher Metab Dis 2000; 23:571-582

Westerman MP, Zhang Y, McConnell JP, Chezick PA, Neelam R, Freels S, Feldman LS, Allen S, Baridi R, Feldman LE, Fung LWM. Ascorbate levels in red blood cells and urine in patients with sickle cell anemia. American Journal of Hematology. 2000;65:174-175.

Weston, B.W., Lin J.-L., Muenzer J., Cameron H.S., Arnold R.R., Seydewitz H.H., Mayatepek E., Van Schaftingen E., Veigha-da-Cunha M., Matern D., Chen Y.T.: Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type Ib phenotype. Pediatr Res 2000; 48:329-334

Yan, L, Zhang, S, Eiff, B, Szumlanski, C, Powers, M, O'Brien, JF, Weinshilboum, RM.: Thiopurine methyltransferase polymorphic tandem repeat: Genotype-phenotype correlation analysis. Clinical Pharmacology Therapeutics, 68 (2): 210-219, 2000.

Yoon HR, Paik MJ, Shin HS, Yu CL, Rinaldo P. (2000) Analysis of plasma free fatty acid cyanomethyl derivatives by GC-NPD for the diagnosis of mitochondrial fatty acid oxidation disorders. Chromatographia 52:211-216.

Reviews and Chapters

Bennett MJ, Rinaldo P, Strauss AW. (2000) Inborn errors of mitochondrial fatty acid oxidation. Crit Rev Clin Lab Scie 37:1-44.

Charrow J, Goodman SI, McCabe ERG, Rinaldo P. (2000) Tandem mass spectrometry in newborn screening [ACMG position statement]. Genet Medicine 2:267-269.

Matern D, Rinaldo P. (Updated April 19, 2000) Medium chain acyl-coenzyme A (MCAD) deficiency. In: GeneClinics: Medical Genetics Knowledge Base [database online]. Copyright, University of Washington, Seattle. Available at http://www.geneclinics.org/profiles/mcad/

Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. (2000) Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 71:10-18.

Case Reports

Klunemann HH, Elleder M, Peyser JM, O'Brien JF, Snow K, Munoz D, Pendlebury: Adultneuronopathic Niemann-Pick disease type C without visceral storage presenting as frontal lobe dementia. Annals of Neurology, 48: 426, 2000.