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The Canadian Journal of Cardiology
|
November 1, 2015
Mitochondrial Diseases and Cardiomyopathies
Catherine Brunel-Guitton, Alina Levtova, Florin Sasarman
JCEM Case Reports
|
January 22, 2024
The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis
Simon-Pierre Guay, Martine Paquette, Valérie Poulin, et al.
Molecular Genetics and Metabolism
|
February 22, 2024
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients
Tanguy Demaret, Karine Bédard, Jean-François Soucy, et al.
International Journal of Molecular Sciences
|
March 31, 2018
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients
Beatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, et al.
JIMD Reports
|
March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
Alina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort
Alina Levtova, Paula J Waters, Daniela Buhas, et al.
Molecular Genetics and Metabolism
|
November 26, 2013
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
Sylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 7) with videos related to
Sort By:
Page
of 1
The Canadian Journal of Cardiology
|
November 1, 2015
Mitochondrial Diseases and Cardiomyopathies
Catherine Brunel-Guitton, Alina Levtova, Florin Sasarman
JCEM Case Reports
|
January 22, 2024
The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis
Simon-Pierre Guay, Martine Paquette, Valérie Poulin, et al.
Molecular Genetics and Metabolism
|
February 22, 2024
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients
Tanguy Demaret, Karine Bédard, Jean-François Soucy, et al.
International Journal of Molecular Sciences
|
March 31, 2018
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients
Beatriz Puisac, Iñigo Marcos-Alcalde, María Hernández-Marcos, et al.
JIMD Reports
|
March 13, 2015
Normal Cerebrospinal Fluid Pyridoxal 5'-Phosphate Level in a PNPO-Deficient Patient with Neonatal-Onset Epileptic Encephalopathy
Alina Levtova, Stephane Camuzeaux, Anne-Marie Laberge, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort
Alina Levtova, Paula J Waters, Daniela Buhas, et al.
Molecular Genetics and Metabolism
|
November 26, 2013
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring
Sylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, et al.
Page
of 1