Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Alina Levtova"'
Autor:
Camille Tremblay-Laganière, Sophie Ehresmann, Alina Levtova, Julie Gauthier, He Fu, Robert McEvilly, Michael Rosenfeld, Elisabeth Simard-Tremblay, Isabelle DeBie, Jean-Francois Soucy, Jacques Michaud, Emmanuelle Lemyre, Philippe Campeau
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100360- (2023)
Externí odkaz:
https://doaj.org/article/dc8772d77727464f9b1b970faad75df1
Autor:
Beatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, Pilar Tobajas Morlana, Alina Levtova, Bernd C. Schwahn, Corinne DeLaet, Baiba Lace, Paulino Gómez-Puertas, Juan Pié
Publikováno v:
International Journal of Molecular Sciences, Vol 19, Iss 4, p 1010 (2018)
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mitochondrial HMG-CoA synthase deficiency or mHS deficiency, OMIM #605911) is an inborn error of metabolism that affects ketone body synthesis. Acute episodes include vomiting, letharg
Externí odkaz:
https://doaj.org/article/e1c6e285adbc4e31a61a18d015ba2cb1
Autor:
Bruno Maranda, Christiane Auray-Blais, Alina Levtova, Paula J. Waters, Nancy Braverman, Rachel Laframboise, Sébastien Lévesque, Catherine Brunel-Guitton, Joe T.R. Clarke, Grant A. Mitchell, Daniela Buhas
Publikováno v:
Journal of inherited metabolic disease. 42(1)
The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications, affected patients were identified during the investigation of various complaints.Using a cross-sectional
Publikováno v:
The Canadian journal of cardiology. 31(11)
Mitochondrial cardiomyopathies are clinically and genetically heterogeneous. An integrative approach encompassing clinical, biochemical, and molecular investigations is required to reach a specific diagnosis. In this review we summarize the clinical
Autor:
Elsa Rossignol, Paola Diadori, Anne-Marie Laberge, Stephane Camuzeaux, Grant A. Mitchell, Peter E. Clayton, Alina Levtova, Pierre Allard, Keith Hyland, Catherine Brunel-Guitton, Philippa B. Mills
Publikováno v:
JIMD Reports ISBN: 9783662474525
Deficiency of pyridox(am)ine 5′-phosphate oxidase (PNPO, OMIM 610090) is a treatable autosomal recessive inborn error of metabolism. Neonatal epileptic encephalopathy and a low cerebrospinal fluid (CSF) pyridoxal 5′-phosphate level are the report
Autor:
Vincenzo Leuzzi, Helena Caldeira Araújo, G. Christoph Korenke, K. T. Verbruggen, Vassiliki Konstantopoulou, Vassili Valayannopoulos, Goknur Haliloglu, Saadet Mercimek-Mahmutoglu, Aizeddin A. Mhanni, Sylvia Stockler-Ipsiroglu, Brad Angle, Michael T. Geraghty, Jennifer MacKenzie, Bruce A. Barshop, Andrew P. Morris, Andrea Schlune, Andreas Schulze, Clara D.M. van Karnebeek, Francjan J. van Spronsen, Iris Marquart, Bruno Maranda, Deborah L. Renaud, William L. Nyhan, Grant A. Mitchell, Nataliya Yuskiv, Turgay Coşkun, Christiane Grolik, Luísa Diogo, Theresa Newlove, Nicola Longo, Alina Levtova, Fernando Scaglia
Publikováno v:
Molecular genetics and metabolism, 111(1), 16-25. Academic Press Inc.
Molecular Genetics and Metabolism, 111(1), 16-25. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 111(1), 16-25. ACADEMIC PRESS INC ELSEVIER SCIENCE
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains wa
Autor:
Sylvia Stockler-Ipsiroglua, Clara van Karnebeek, Catherine Brunel Guitton, Michael T. Geraghty, Alina Levtova, Jennifer MacKenzie, Bruno Maranda, Alicia Chan, Saadet Mercimek-Mahmutoglu, Aizeddin A. Mhanni, Grant Mitchell, Andreas Schulze, Pranesh Chakraborty, Monica Hernandez, Sarah Khanghura, Beth Potter
Publikováno v:
Clinical Biochemistry. 47:151