Georgirene Vladutiu PhD
Pediatrics
Professor; Professor of Pediatrics, Neurology and Pathology
Buffalo General Hospital
100 High Street
Buffalo NY, 14203
Phone: 716-859-7741
Fax: 716-859-7749
Email: gdv@buffalo.edu

View map


OFFICE LOCATIONS

Buffalo General Hospital
Robert Guthrie Biochemical Genetics Laboratory
100 High Street
Buffalo NY, 14203

Phone: (716) 859-7741
Fax: (716) 859-7749
Contact: Patrica Jones
Email: gvladutiu@upa.chob.edu
View map


SPECIALTIES

Clinical Biochemical Genetics
Molecular Genetic Pathology - Clinical Biochemical
Pediatric Pathology
Pediatrics
Molecular and Cellular Biology
Molecular genetics


EDUCATION

1973 Doctor of Philosophy, Microbiology
University at Buffalo
1970 Master of Arts, Microbiology
University at Buffalo


EXPERTISE

Inborn errors of metabolism
Particular expertise in the study of metabolic muscle disease, e.g., mitochondrial myopathies, disorders of purine,glycogen, and lipid metabolism


PUBLICATIONS

Vladutiu GD, Natelson BH; Association of medically unexplained fatigue with ACE insertion/deletion polymorphism in Gulf War veterans.; Muscle Nerve; 2004 Jul; 30(1); 38-43
Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ; Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.; Am J Med Genet; 2003 Dec; 123A(2); 172-178
Wong LJ, Perng CL, Hsu CH, Bai RK, Schelley S, Vladutiu GD, Vogel H, Enns GM; Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load.; J Med Genet; 2003 Nov; 40(11); 125-125
Vladutiu GD, Quackenbush EJ, Hainline BE, Albers S, Smail DS, Bennett MJ; Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations.; J Pediatr; 2002 Nov; 141(5); 734-736
Vladutiu GD, Bennett MJ, Fisher NM, Smail D, Boriack R, Leddy J, Pendergast DR; Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency.; Muscle Nerve; 2002 Oct; 26(4); 492-498
Phillips PS, Haas RH, Bannykh S, Hathaway S, Gray NL, Kimura BJ, Vladutiu GD, England JD; Statin-associated myopathy with normal creatine kinase levels.; Ann Intern Med; 2002 Oct; 137(7); 581-585
Vladutiu GD; Laboratory diagnosis of metabolic myopathies.; Muscle Nerve; 2002 May; 25(5); 649-663
Wortmann RL, Georgirene Vladutiu; The clinical laboratory evaluation of the patient with noninflammatory myopathy.; Curr Rheumatol Rep; 2001 Aug; 3(4); 310-316
Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Georgirene Vladutiu; Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.; J Child Neurol; 2001 Feb; 16(2); 136-138
Hisama FM, Zemel S, Cherniske EM, Georgirene Vladutiu, Pober BR; 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.; Am J Med Genet; 2001 Jan; 98(2); 121-124
Georgirene Vladutiu, Reid Heffner; Succinate dehydrogenase deficiency.; Arch Pathol Lab Med; 2000 Dec; 124(12); 1755-1758
Georgirene Vladutiu, Slonim AE; Combined biochemical and molecular diagnosis in blood of a common lipid myopathy.; Muscle Nerve; 2000 Nov; 23(11); 1773-1775
Georgirene Vladutiu; Complex phenotypes in metabolic muscle diseases.; Muscle Nerve; 2000 Aug; 23(8); 1157-1159
Georgirene Vladutiu, Bennett MJ, Smail D, Wong LJ, Taggart RT, Lindsley HB; A variable myopathy associated with heterozygosity for the R503C mutation in the carnitine palmitoyltransferase II gene.; Mol Genet Metab; 2000 Jun; 70(2); 134-141
Georgirene Vladutiu, Tabone E; Mitochondrial disease in patients with exercise intolerance.; N Engl J Med; 2000 Feb; 342(6); 438-439
Georgirene Vladutiu; The molecular diagnosis of metabolic myopathies.; Neurol Clin; 2000 Feb; 18(1); 53-104
Smail D, Gambino L, Boles C, Georgirene Vladutiu; Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper.; Clin Chem; 1999 Nov; 45(11); 2035-2038
Georgirene Vladutiu; Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency.; Muscle Nerve; 1999 Jul; 22(7); 949-951
Georgirene Vladutiu; Advances in the genetic mechanisms of mitochondrial disease.; Curr Opin Neurol; 1997 Dec; 10(6); 512-518
Georgirene Vladutiu, Idiculla S; Association between internalized nuclei and mitochondrial enzyme defects in muscle.; Muscle Nerve; 1997 Jun; 20(6); 760-763
Georgirene Vladutiu; Metabolic muscle disease.; Ann Intern Med; 1994 Aug; 121(3); 234-234
Herrick MK, Twiss JL, Georgirene Vladutiu, Glasscock GF, Horoupian DS; Concomitant branching enzyme and phosphorylase deficiencies. An unusual glycogenosis with extensive neuronal polyglucosan storage.; J Neuropathol Exp Neurol; 1994 May; 53(3); 239-246
Georgirene Vladutiu, Hogan K, Saponara I, Tassini L, Conroy J; Carnitine palmitoyl transferase deficiency in malignant hyperthermia.; Muscle Nerve; 1993 May; 16(5); 485-491
Georgirene Vladutiu, Kewin CC; Alterations in specific activity of lysosomal alpha-glucosidase in cystic fibrosis.; Clin Chim Acta; 1988 Dec; 178(3); 337-343
Moore BR, Georgirene Vladutiu, Free SJ; A developmentally controlled change in the post-translational modifications on the lysosomal alpha-mannosidase of the cellular slime mould Dictyostelium discoideum.; Biochem J; 1987 May; 243(3); 739-746
Georgirene Vladutiu, Middleton E; Effects of flavonoids on enzyme secretion and endocytosis in normal and mucolipidosis II fibroblasts.; Life Sci; 1986 Aug; 39(8); 717-726
Van Oost BA, Smith JB, Holmsen H, Georgirene Vladutiu; Lysosomotropic agents selectively potentiate thrombin-induced acid hydrolase secretion from platelets.; Proc Natl Acad Sci U S A; 1985 Apr; 82(8); 2374-2378
Georgirene Vladutiu, Dangelmaier CA, Amigone V, Van Oost BA, Holmsen H; High- and low-uptake forms of beta-hexosaminidase in human platelets. Selective retention of the high-uptake form during stimulation with thrombin.; Biochim Biophys Acta; 1984 Dec; 802(3); 435-441
Georgirene Vladutiu; Immunocytochemical localization of beta-hexosaminidase and electron-microscopic characterization of human fibroblasts following treatment with monensin and nigericin.; Biosci Rep; 1984 Dec; 4(12); 1079-1088
Georgirene Vladutiu; Transport and processing of beta-hexosaminidase in normal and mucolipidosis-II cultured fibroblasts. Effect of monensin and nigericin.; Biochem J; 1984 Feb; 218(1); 261-268
Georgirene Vladutiu; Effect of the co-existence of galactosyl and phosphomannosyl residues on beta-hexosaminidase on the processing and transport of the enzyme in mucolipidosis I fibroblasts.; Biochim Biophys Acta; 1983 Nov; 760(3); 363-370
Georgirene Vladutiu; The effect of chloroquine on the distribution of newly synthesized and old beta-hexosaminidase in fibroblasts.; Biochem J; 1982 Dec; 208(3); 559-566
Georgirene Vladutiu, Fike RM, Amigone VT; Influence of sialic acid on cell surface properties in I-cell disease fibroblasts.; In Vitro; 1981 Jul; 17(7); 588-592
Georgirene Vladutiu, Rattazzi MC; Compartmental distribution of beta-hexosaminidase isoenzymes in I-cell fibroblasts.; Biochem J; 1981 Jun; 196(3); 657-662
Georgirene Vladutiu, Rattazzi MC; The effect of monensin on beta-hexosaminidase transport in normal and I-cell fibroblasts.; Biochem J; 1980 Dec; 192(3); 813-820
Georgirene Vladutiu, Glueck CJ, Schultz MT, McNeely S, Guthrie R; beta-Lipoprotein quantitation in cord blood spotted on filter paper: a screening test.; Clin Chem; 1980 Aug; 26(9); 1285-1290
Georgirene Vladutiu; Effect of temperature on extracellular accumulation of beta-D-N-acetylglucosaminidase in I-cell disease fibroblast cultures.; Life Sci; 1979 Jun; 24(25); 2369-2376
Georgirene Vladutiu, Rattazzi MC; Excretion-reuptake route of beta-hexosaminidase in normal and I-cell disease cultured fibroblasts.; J Clin Invest; 1979 Apr; 63(4); 595-601
Georgirene Vladutiu; I-cell disease. A hypothesis for the structure of the carbohydrate recognition site on beta-D-N-acetylhexosaminidase.; Biochem J; 1978 May; 171(2); 509-512
Georgirene Vladutiu, Rattazzi MC; Cell disease: desialylation of beta-hexosaminidase and its effect on uptake by fibroblasts.; Biochim Biophys Acta; 1978 Feb; 539(1); 31-36
Georgirene Vladutiu; Letter: Features of I-cell disease in normal tissues.; N Engl J Med; 1976 Jul; 295(2); 112-113
Georgirene Vladutiu, Rattazzi MC; Abnormal lysosomal hydrolases excreted by cultured fibroblasts in I-cell disease (mucolipidosis II).; Biochem Biophys Res Commun; 1975 Dec; 67(3); 956-964
Georgirene Vladutiu, Rose NR; Intracellular distribution of a primate-specific esterase in cultured cells and tissues.; J Cell Biol; 1974 Aug; 62(2); 560-566
Georgirene Vladutiu, Rose NR; Giant lysosomes in cultured monkey kidney cells.; J Histochem Cytochem; 1974 Mar; 22(3); 203-205
Georgirene Vladutiu, Rose NR; Antigenic changes in transformed FL human amnion cells.; Clin Exp Immunol; 1973 Nov; 15(3); 417-426
Georgirene Vladutiu, Bigazzi PE, Rose NR; Localization of a primate-specific esterase using immunofluorescence and immunoperoxidase techniques.; J Histochem Cytochem; 1973 Jun; 21(6); 559-567
Georgirene Vladutiu, Rose NR; Quantitative estimation of a primate-specific esterase in normal and malignant tissue.; Proc Soc Exp Biol Med; 1973 May; 143(1); 109-113
Vladutiu GD; Heterozygosity: an expanding role in proteomics.; Mol Genet Metab; 74(1-2); 51-63
Georgirene Vladutiu, Carmody PJ, Rattazzi MC; Immunoaffinity chromatography of human beta-hexosaminidase A.; Prep Biochem; 5(2); 147-159
Georgirene Vladutiu, Saponara I, Conroy JM, Grier RE, Brady L, Brady P; Immunoquantitation of carnitine palmitoyl transferase in skeletal muscle of 31 patients.; Neuromuscul Disord; 2(4); 249-259
Taggart RT, Smail D, Apolito C, Georgirene Vladutiu; Novel mutations associated with carnitine palmitoyltransferase II deficiency.; Hum Mutat; 13(3); 210-220
Georgirene Vladutiu, Bennett, M. J., Fisher, N. M., Smail, D., John Leddy, David Pendergast; Phenotypic variability among first-degree relatives with the same mutations in the carnitine palmitoyl transferase II gene; Nerve and Muscle;
Shaukat A, Benekli M, Vladutiu GD, Slack JL, Wetzler M, Baer MR; Simvastatin-fluconazole causing rhabdomyolysis.; Ann Pharmacother; 37(7-8); 1032-1035
Vockley J, Rinaldo P, Bennett MJ, Matern D, Georgirene Vladutiu; Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways.; Mol Genet Metab; 71(1-2); 10-18
Pendergast DR, Fisher NM, Meksawan K, Doubrava M, Vladutiu GD; The distribution of white blood cell fat oxidation in health and disease.; J Inherit Metab Dis; 27(1); 89-99


GRANTS

April 2004 to December 2004
Interdisciplinary Research and Creative Activities Fund (IRCAF) Grant
The University at Buffalo
David Pendergast Nadine Fisher
$34,000
October 2003 to September 2006
Improved diagnosis of metabolic myopathies
The John R. Oishei Foundation
Georgirene Vladutiu
$354,000
July 2003 to June 2006
Improved diagnosis of metabolic diseases among the statin myopathies
Muscular Dystrophy Association
Georgirene Vladutiu
$262,648