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Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7.
Mol Genet Metab. 2014.
PMID: 24268530
Free article.
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
Levtova A, Waters PJ, Buhas D, Lévesque S, Auray-Blais C, Clarke JTR, Laframboise R, Maranda B, Mitchell GA, Brunel-Guitton C, Braverman NE.
Levtova A, et al.
J Inherit Metab Dis. 2019 Jan;42(1):107-116. doi: 10.1002/jimd.12032.
J Inherit Metab Dis. 2019.
PMID: 30740739
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Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy.
Levtova A, Camuzeaux S, Laberge AM, Allard P, Brunel-Guitton C, Diadori P, Rossignol E, Hyland K, Clayton PT, Mills PB, Mitchell GA.
Levtova A, et al.
JIMD Rep. 2015;22:67-75. doi: 10.1007/8904_2015_413. Epub 2015 Mar 12.
JIMD Rep. 2015.
PMID: 25762494
Free PMC article.
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Mitochondrial Diseases and Cardiomyopathies.
Brunel-Guitton C, Levtova A, Sasarman F.
Brunel-Guitton C, et al. Among authors: levtova a.
Can J Cardiol. 2015 Nov;31(11):1360-76. doi: 10.1016/j.cjca.2015.08.017. Epub 2015 Aug 28.
Can J Cardiol. 2015.
PMID: 26518446
Review.
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Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.
Puisac B, Marcos-Alcalde I, Hernández-Marcos M, Tobajas Morlana P, Levtova A, Schwahn BC, DeLaet C, Lace B, Gómez-Puertas P, Pié J.
Puisac B, et al. Among authors: levtova a.
Int J Mol Sci. 2018 Mar 28;19(4):1010. doi: 10.3390/ijms19041010.
Int J Mol Sci. 2018.
PMID: 29597274
Free PMC article.
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The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
Demaret T, Bédard K, Soucy JF, Watkins D, Allard P, Levtova A, O'Brien A, Brunel-Guitton C, Rosenblatt DS, Mitchell GA.
Demaret T, et al. Among authors: levtova a.
Mol Genet Metab. 2024 May;142(1):108345. doi: 10.1016/j.ymgme.2024.108345. Epub 2024 Feb 10.
Mol Genet Metab. 2024.
PMID: 38387306
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The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis.
Guay SP, Paquette M, Poulin V, Levtova A, Baass A, Bernard S.
Guay SP, et al. Among authors: levtova a.
JCEM Case Rep. 2024 Jan 19;2(2):luae004. doi: 10.1210/jcemcr/luae004. eCollection 2024 Feb.
JCEM Case Rep. 2024.
PMID: 38249444
Free PMC article.
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