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JIMD Reports
|
January 14, 2022
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development
Ivan Shelihan, Elsa Rossignol, Jean-Claude Décarie, et al.
Molecular Genetics and Metabolism Reports
|
April 19, 2017
Atypical juvenile presentation of G<sub>M2</sub> gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the <i>GM2A</i> gene
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, et al.
JIMD Reports
|
November 27, 2015
A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect
Jenny Bellerose, Mathilde Neugnot-Cerioli, Karine Bédard, et al.
Molecular Genetics and Metabolism
|
December 17, 2008
Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?
Catherine Brunel-Guitton, Georges-Etienne Rivard, Jacques Galipeau, et al.
Molecular Genetics and Metabolism
|
January 6, 2026
Influence of a 12 week at-home resistance exercise program on <sup>13</sup>C-glucose metabolism in patients with metabolic myopathies
Kendall Plant, Caoimhe Howard, Philippe Bourdon, et al.
Molecular Genetics and Metabolism Reports
|
February 7, 2019
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency
Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, et al.
Molecular Genetics and Metabolism Reports
|
May 9, 2019
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency
Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, et al.
Molecular Genetics and Metabolism Reports
|
March 21, 2023
Use of dexamethasone in acute rhabdomyolysis in <i>LPIN1</i> deficiency
Mehdi Yeganeh, Kaitlin March, Catherine Jones, 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.
Paediatrics & Child Health
|
June 27, 2019
Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)
Eugenio Zapata-Aldana, Hugh J McMillan, Tony Rupar, et al.
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of 4
Search research articles
Search
Showing results (11-20 of 32) with videos related to
Sort By:
Page
of 4
JIMD Reports
|
January 14, 2022
Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development
Ivan Shelihan, Elsa Rossignol, Jean-Claude Décarie, et al.
Molecular Genetics and Metabolism Reports
|
April 19, 2017
Atypical juvenile presentation of G<sub>M2</sub> gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the <i>GM2A</i> gene
Carla Martins, Catherine Brunel-Guitton, Anne Lortie, et al.
JIMD Reports
|
November 27, 2015
A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect
Jenny Bellerose, Mathilde Neugnot-Cerioli, Karine Bédard, et al.
Molecular Genetics and Metabolism
|
December 17, 2008
Enzyme replacement therapy in pediatric patients with Gaucher disease: what should we use as maintenance dosage?
Catherine Brunel-Guitton, Georges-Etienne Rivard, Jacques Galipeau, et al.
Molecular Genetics and Metabolism
|
January 6, 2026
Influence of a 12 week at-home resistance exercise program on <sup>13</sup>C-glucose metabolism in patients with metabolic myopathies
Kendall Plant, Caoimhe Howard, Philippe Bourdon, et al.
Molecular Genetics and Metabolism Reports
|
February 7, 2019
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency
Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, et al.
Molecular Genetics and Metabolism Reports
|
May 9, 2019
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency
Delia Apatean, Bojana Rakic, Catherine Brunel-Guitton, et al.
Molecular Genetics and Metabolism Reports
|
March 21, 2023
Use of dexamethasone in acute rhabdomyolysis in <i>LPIN1</i> deficiency
Mehdi Yeganeh, Kaitlin March, Catherine Jones, 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.
Paediatrics & Child Health
|
June 27, 2019
Muscle problems in juvenile-onset acid maltase deficiency (Pompe disease)
Eugenio Zapata-Aldana, Hugh J McMillan, Tony Rupar, et al.
Page
of 4