Links to Abstracts

    Isackson PJ, Bujnicki H, Harding C, Vladutiu GD. Myoadenylate Deaminase
Deficiency Caused by Alternative Splicing Due to a Novel Intronic Mutation in the AMPD1 Gene, Mol Genet Metab, in press

     Isackson PJ, Tarnopolsky M, Vladutiu GD. A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease.
Mol Genet Metab. 2005 Jul;85(3):239-42. Epub 2005 Apr 7.

     Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004;114:925-931.

     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;1;123A(2):172-8.

    Lalani SR, Lotze TE, Vladutiu GD, Plunkett K, Adesina AM, Scaglia F.

 Isolated mitochondrial myopathy associated with muscle coenzyme Q₁₀

 deficiency, Arch Neurol. 2005;62(2):317-20.

    Vladutiu GD, Natelson BH. Association of medically unexplained

 fatigue with ACE insertion/deletion polymorphism in Gulf War veterans.

Muscle Nerve, 30:38-43, 2004

    Wong L-JC, Perng C-L, Hsu C-H, Bai R-K, Schelley S, Vladutiu GD,

 Enns GM. Compensatory amplification of mitochondrial DNA in a patient

 with a novel deletion/duplication and high mutant load. Am J Med Genet.

 2003;40(11):e125.

    Pendergast DP, Fisher NM, Meksawan K, Doubrava M, Vladutiu GD. The distribution of white blood cell fat oxidation in health and disease, J Inher Metab Dis, 2004;27(1):89-99.

    Shaukat A, Benekli M, Vladutiu GD, Slack JL, Wetzler M, Baer MR. Simvastatin- fluconazole causing rhabdomyolysis,  Ann Pharmacother, 2003;37(7-8):1032-5.

    Vladutiu GD, Quackenbush EJ, Hainline BE, Albers S, Smail DS, Bennett MS: Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations, J Pediatr, 2002;141(5):734-6.

    Phillips PS, Haas RH, Bannykh S, Hathaway S, Gray NI, Kimura BJ, Vladutiu GD, England JD. Statin-associated myopathy with normal creatine kinase levels.  Annals of Internal Medicine 2002 137(7):681-5

    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 26(4):492-8 
     
    Vladutiu GD. Laboratory diagnosis of metabolic myopathies. Muscle Nerve 2002 25(5):649-663    

    Vladutiu GD. Heterozygosity: an expanding role in proteomics. Mol Genet Metab 2001 74(1-2):51-63

    Wortmann RL, Vladutiu GD. The clinical laboratory evaluation of the patient with noninflammatory myopathy. Curr Rheumatol Rep 2001 3(4):310-316 

    Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Vladutiu GD. Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. J Child Neurol 2001 16(2):136-8

    Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR. 46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters. Am J Med Genet 2001 15;98(2):121-4

    Vladutiu GD, Heffner RR. Succinate dehydrogenase deficiency. Arch Pathol Lab Med 2000 124(12):1755-8

    Vladutiu GD, Slonim AE. Combined biochemical and molecular diagnosis of blood of a common lipid myopathy. Muscle Nerve 2000 23(11):1773-1775

    Vockley J, Rinaldo P, Bennett MJ, Matern D, Vladutiu GD. Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 2000 71(1-2):10-8

    Vladutiu GD, 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 70(2):134-41

    Vladutiu GD. Complex phenotypes in metabolic muscle diseases. Muscle Nerve 2000 23(8):1157-9

    Vladutiu GD. The molecular diagnosis of metabolic myopathies. Neurol Clin 2000 18(1):53-104  

    Smail D, Gambino L, Boles C, Vladutiu GD. Rapid, cost-effective gene mutation screening for carnitine palmitoyltransferase II deficiency using whole blood on filter paper. Clin Chem 1999 45(11):2035-8

    Vladutiu GD. Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency. Muscle Nerve 1999 22(7):949-51

    Taggart RT, Smail D, Apolito C, Vladutiu GD. Novel mutations associated with carnitine palmitoyltransferase II deficiency. Hum Mutat 1999;13(3):210-20

 

   Links to Full-text Articles

    Vladutiu GD. When is CPT II deficiency really CPT+?  Overview of coexisting disorders and complex phenotypes with one case history included.  

    Vladutiu GD. Matter over mind: The realities of a common muscle disease
General article about CPT II deficiency written for the FOD newsletter.

    Vladutiu GD. Fundamental differences Brief article that explains the different types of CPT deficiency.

    Vladutiu GD. Advances in mitochondrial disease research One of a group of articles in Mitochondrial and Metabolic Disorders: A Primary Care Physician's Guide.
Requires Adobe Acrobat plug-in to view. 

    Hesterlee, S. Running on empty: Keeping up with metabolic myopathies
Article from the MDA magazine Quest that includes comments from MDA grantee Georgirene Vladutiu on CPT II deficiency.