Vladutiu GD - Search Results

1

46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters.

Hisama FM, Zemel S, Cherniske EM, Vladutiu GD, Pober BR. Hisama FM, et al. Among authors: vladutiu gd. Am J Med Genet. 2001 Jan 15;98(2):121-4. doi: 10.1002/1096-8628(20010115)98:2<121::aid-ajmg1019>3.0.co;2-4. Am J Med Genet. 2001. PMID: 11223846

2

Laboratory diagnosis of metabolic myopathies.

Vladutiu GD. Vladutiu GD. Muscle Nerve. 2002 May;25(5):649-663. doi: 10.1002/mus.10104. Muscle Nerve. 2002. PMID: 11994958 Review.

3

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.

Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ. Scaglia F, et al. Among authors: vladutiu gd. Am J Med Genet A. 2003 Dec 1;123A(2):172-8. doi: 10.1002/ajmg.a.20315. Am J Med Genet A. 2003. PMID: 14598342

4

CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency.

Isackson PJ, Bennett MJ, Lichter-Konecki U, Willis M, Nyhan WL, Sutton VR, Tein I, Vladutiu GD. Isackson PJ, et al. Among authors: vladutiu gd. Mol Genet Metab. 2008 Aug;94(4):422-427. doi: 10.1016/j.ymgme.2008.05.002. Epub 2008 Jun 11. Mol Genet Metab. 2008. PMID: 18550408

5

Genetic risk factors associated with lipid-lowering drug-induced myopathies.

Vladutiu GD, Simmons Z, Isackson PJ, Tarnopolsky M, Peltier WL, Barboi AC, Sripathi N, Wortmann RL, Phillips PS. Vladutiu GD, et al. Muscle Nerve. 2006 Aug;34(2):153-62. doi: 10.1002/mus.20567. Muscle Nerve. 2006. PMID: 16671104

6

Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency.

Vladutiu GD. Vladutiu GD. Muscle Nerve. 1999 Jul;22(7):949-51. doi: 10.1002/(sici)1097-4598(199907)22:7<949::aid-mus23>3.0.co;2-i. Muscle Nerve. 1999. PMID: 10398218

7

Novel mutations in the gene encoding very long-chain acyl-CoA dehydrogenase identified in patients with partial carnitine palmitoyltransferase II deficiency.

Isackson PJ, Sutton KA, Hostetler KY, Vladutiu GD. Isackson PJ, et al. Among authors: vladutiu gd. Muscle Nerve. 2013 Feb;47(2):224-9. doi: 10.1002/mus.23498. Epub 2012 Nov 21. Muscle Nerve. 2013. PMID: 23169530

8

Association of common variants in the human eyes shut ortholog (EYS) with statin-induced myopathy: evidence for additional functions of EYS.

Isackson PJ, Ochs-Balcom HM, Ma C, Harley JB, Peltier W, Tarnopolsky M, Sripathi N, Wortmann RL, Simmons Z, Wilson JD, Smith SA, Barboi A, Fine E, Baer A, Baker S, Kaufman K, Cobb B, Kilpatrick JR, Vladutiu GD. Isackson PJ, et al. Among authors: vladutiu gd. Muscle Nerve. 2011 Oct;44(4):531-8. doi: 10.1002/mus.22115. Epub 2011 Aug 8. Muscle Nerve. 2011. PMID: 21826682 Free PMC article.

9

Association between internalized nuclei and mitochondrial enzyme defects in muscle.

Vladutiu GD, Idiculla S. Vladutiu GD, et al. Muscle Nerve. 1997 Jun;20(6):760-3. doi: 10.1002/(sici)1097-4598(199706)20:6<760::aid-mus18>3.0.co;2-y. Muscle Nerve. 1997. PMID: 9149088 No abstract available.

10

Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.

Vladutiu GD, Isackson PJ, Kaufman K, Harley JB, Cobb B, Christopher-Stine L, Wortmann RL. Vladutiu GD, et al. Mol Genet Metab. 2011 Sep-Oct;104(1-2):167-73. doi: 10.1016/j.ymgme.2011.07.001. Epub 2011 Jul 12. Mol Genet Metab. 2011. PMID: 21795085 Free PMC article.

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