Georgirene D Vladutiu

Summary

Affiliation: University at Buffalo
Country: USA

Publications

  1. ncbi request reprint Laboratory diagnosis of metabolic myopathies
    Georgirene D Vladutiu
    Department of Pediatrics, Division of Genetics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, USA
    Muscle Nerve 25:649-63. 2002
  2. ncbi request reprint Genetic risk factors associated with lipid-lowering drug-induced myopathies
    Georgirene D Vladutiu
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, 936 Delaware Avenue, Buffalo, New York 14209, USA
    Muscle Nerve 34:153-62. 2006
  3. pmc Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies
    Georgirene D Vladutiu
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14203, USA
    Mol Genet Metab 104:167-73. 2011
  4. ncbi request reprint The FDA announces new drug labeling for pharmacogenetic testing: is personalized medicine becoming a reality?
    Georgirene D Vladutiu
    Departments of Pediatrics, Neurology and Pathology, School of Medicine and Biomedical Sciences, The State University of New York at Buffalo, Buffalo, NY 14214, USA
    Mol Genet Metab 93:1-4. 2008
  5. doi request reprint Genetic predisposition to statin myopathy
    Georgirene D Vladutiu
    Departments of Pediatrics, Neurology and Pathology and Anatomical Sciences, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York 14203, USA
    Curr Opin Rheumatol 20:648-55. 2008
  6. ncbi request reprint Association of medically unexplained fatigue with ACE insertion/deletion polymorphism in Gulf War veterans
    Georgirene D Vladutiu
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, USA
    Muscle Nerve 30:38-43. 2004
  7. pmc Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: evidence for additional functions of EYS
    Paul J Isackson
    Department of Pediatrics, University at Buffalo, Buffalo, New York 14203, USA
    Muscle Nerve 44:531-8. 2011
  8. doi request reprint CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA
    Mol Genet Metab 94:422-7. 2008
  9. ncbi request reprint Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations
    Georgirene D Vladutiu
    Division of Genetics, Children s Hospital of Buffalo and Department of Pediatrics, School of Medicine and Biomedical Sciences, University at Buffalo, New York 14209, USA
    J Pediatr 141:734-6. 2002
  10. ncbi request reprint A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease
    Paul J Isackson
    Department of Pediatrics, Division of Genetics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA
    Mol Genet Metab 85:239-42. 2005

Detail Information

Publications20

  1. ncbi request reprint Laboratory diagnosis of metabolic myopathies
    Georgirene D Vladutiu
    Department of Pediatrics, Division of Genetics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, USA
    Muscle Nerve 25:649-63. 2002
    ....
  2. ncbi request reprint Genetic risk factors associated with lipid-lowering drug-induced myopathies
    Georgirene D Vladutiu
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, 936 Delaware Avenue, Buffalo, New York 14209, USA
    Muscle Nerve 34:153-62. 2006
    ..The effect of statins on energy metabolism combined with a genetic susceptibility to triggering of muscle symptoms may account for myopathic outcomes in certain high-risk groups...
  3. pmc Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies
    Georgirene D Vladutiu
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14203, USA
    Mol Genet Metab 104:167-73. 2011
    ....
  4. ncbi request reprint The FDA announces new drug labeling for pharmacogenetic testing: is personalized medicine becoming a reality?
    Georgirene D Vladutiu
    Departments of Pediatrics, Neurology and Pathology, School of Medicine and Biomedical Sciences, The State University of New York at Buffalo, Buffalo, NY 14214, USA
    Mol Genet Metab 93:1-4. 2008
  5. doi request reprint Genetic predisposition to statin myopathy
    Georgirene D Vladutiu
    Departments of Pediatrics, Neurology and Pathology and Anatomical Sciences, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York 14203, USA
    Curr Opin Rheumatol 20:648-55. 2008
    ..Data are provided on the prevalence of statin use in the United States; incidence of associated myopathy; terminology relating to statin myopathy and genetic susceptibility; and common myths surrounding this disorder...
  6. ncbi request reprint Association of medically unexplained fatigue with ACE insertion/deletion polymorphism in Gulf War veterans
    Georgirene D Vladutiu
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, New York, USA
    Muscle Nerve 30:38-43. 2004
    ..78 versus 0.39; OR, 5.4; 95% CI, 1.6-18.4; P = 0.007). Veterans with the DD genotype were eight times more likely to develop CFS/ICF than were those with the II genotype (OR, 8.30; 95% CI, 1.50-56.09; P = 0.009)...
  7. pmc Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: evidence for additional functions of EYS
    Paul J Isackson
    Department of Pediatrics, University at Buffalo, Buffalo, New York 14203, USA
    Muscle Nerve 44:531-8. 2011
    ..Of the nearly 38 million people in the USA who receive statin therapy, 0.1-0.5% experience severe or life-threatening myopathic side effects...
  8. doi request reprint CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, SUNY at Buffalo, 100 High Street, Buffalo, NY 14203, USA
    Mol Genet Metab 94:422-7. 2008
    ..In addition, based on currently available structural, biochemical and clinical data, we have classified all 64 known disease-causing mutations into groups with different predicted phenotypes depending on their CPT2 allelic counterparts...
  9. ncbi request reprint Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations
    Georgirene D Vladutiu
    Division of Genetics, Children s Hospital of Buffalo and Department of Pediatrics, School of Medicine and Biomedical Sciences, University at Buffalo, New York 14209, USA
    J Pediatr 141:734-6. 2002
    ..A new phenotype for a severe late infantile form of CPT II deficiency with hypoglycemia is associated with compound heterozygosity for the severe Q413fs mutation and a mild point mutation (P50H)...
  10. ncbi request reprint A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease
    Paul J Isackson
    Department of Pediatrics, Division of Genetics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA
    Mol Genet Metab 85:239-42. 2005
    ..Each of three children manifested symptoms of McArdle disease and was either a compound heterozygote for these two mutations or homozygous for R49X...
  11. ncbi request reprint Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY 14209, USA
    Mol Genet Metab 89:323-31. 2006
    ..The implications of these mutations are described in light of recent advances in our understanding of the molecular structure of members of the carnitine acyltransferase family...
  12. ncbi request reprint Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene
    Paul J Isackson
    Department of Pediatrics, Division of Genetics, State University of New York at Buffalo, Buffalo, NY 14209, USA
    Mol Genet Metab 86:250-6. 2005
    ..Analysis of 137 Caucasian normal control patients determined that the K287I mutation is relatively frequent (5.1% carrier frequency), whereas the IVS2-(4-7)delCTTT mutation is rare and not present in 274 chromosomes...
  13. ncbi request reprint Simvastatin-fluconazole causing rhabdomyolysis
    Aasma Shaukat
    School of Medicine and Biomedical Sciences, State University of New York at Buffalo, Buffalo, NY, USA
    Ann Pharmacother 37:1032-5. 2003
    ..To report a case of rhabdomyolysis after concomitant use of simvastatin, a commonly used hydroxymethylglutaryl coenzyme A (HMG-CoA) reductase inhibitor, and fluconazole, an azole antifungal agent...
  14. doi request reprint Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency
    Paul J Isackson
    Department of Pediatrics, University at Buffalo, Buffalo, New York, USA
    Muscle Nerve 47:224-9. 2013
    ..All patients had skeletal muscle CPTII enzyme activity levels indicative of heterozygosity for CPT2 mutations, however sequence analysis identified no pathogenic mutations within the CPT2 gene...
  15. ncbi request reprint Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency
    Georgirene D Vladutiu
    Departments of Pediatrics, Neurology, and Pathology, School of Medicine and Biomedical Sciences, State University of New York, 936 Delaware Avenue, Buffalo, New York 14209, USA
    Muscle Nerve 26:492-8. 2002
    ..Reliance on carbohydrates during stress and hormonal alterations may explain, in part, the variance in ages of onset and serverity of symptoms in myopathic patients...
  16. ncbi request reprint Metabolic myopathies discovered during investigations of statin myopathy
    Steven K Baker
    Can J Neurol Sci 35:94-7. 2008
  17. ncbi request reprint Statin-associated myopathy with normal creatine kinase levels
    Paul S Phillips
    Interventional Cardiology, Scripps Mercy Hospital and University of California, San Diego, Medical Center, San Diego, California 92103, USA
    Ann Intern Med 137:581-5. 2002
    ..Muscle symptoms in patients who are treated with statins and have normal creatine kinase levels are not well understood...
  18. ncbi request reprint Third Robert Guthrie Memorial Lecture
    Georgirene D Vladutiu
    Society for Inherited Metabolic Disorders
    Mol Genet Metab 91:303-4. 2007
  19. ncbi request reprint Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency
    Seema R Lalani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Arch Neurol 62:317-20. 2005
    ..Primary coenzyme Q(10) (CoQ(10)) deficiency is rare. The encephalomyopathic form, described in few families, is characterized by exercise intolerance, recurrent myoglobinuria, developmental delay, ataxia, and seizures...
  20. ncbi request reprint Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis
    Fernando Scaglia
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, USA
    Am J Med Genet A 123:172-8. 2003
    ....