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JIMD Reports
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May 13, 2024
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
January 3, 2026
Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion
Flavie Borel, Christel Thauvin, Manuel Schiff, et al.
Molecular Genetics and Metabolism Reports
|
August 7, 2019
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients
Yvan Herenger, Emmanuelle Maes, Laurent François, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
April 8, 2016
An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1
Silvana De Lucia, Samia Pichard, Adina Ilea, et al.
JIMD Reports
|
July 21, 2025
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile
Romain Penicaud, Jean-Baptiste Ferron, Xavier Valette, et al.
Molecular Genetics and Metabolism
|
June 20, 2026
Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study
Vincent Lavoie, Samia Pichard, Juliette Bouchereau, et al.
Ebiomedicine
|
February 24, 2017
Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency
Paule Bénit, Alice Pelhaître, Elise Saunier, et al.
Molecular Genetics and Metabolism Reports
|
April 18, 2025
Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review
Etienne Mondésert, Juliette Bouchereau, Manuel Schiff, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2024
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study
Quentin Salardaine, Natalia Shor, Nicolas Villain, et al.
Clinical Nutrition (Edinburgh, Scotland)
|
May 14, 2016
Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition
Laurent Béghin, Stéphanie Coopman, Manuel Schiff, et al.
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Search research articles
Search
Showing results (31-40 of 159) with videos related to
Sort By:
Page
of 16
JIMD Reports
|
May 13, 2024
Late-onset refractory hemolytic anemia in siblings treated for methionine synthase reductase deficiency: A rare complication possibly prevented by hydroxocobalamin dose escalation?
Alexandre Nguyen, Samuel Deshayes, Marie Nowoczyn, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
January 3, 2026
Mild and late onset forms of type I 3-methylglutaconic aciduria presenting as isolated cerebellar ataxia without leukodystrophy: case reports and phenotype expansion
Flavie Borel, Christel Thauvin, Manuel Schiff, et al.
Molecular Genetics and Metabolism Reports
|
August 7, 2019
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patients
Yvan Herenger, Emmanuelle Maes, Laurent François, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
April 8, 2016
An unfortunate challenge: Ketogenic diet for the treatment of Lennox-Gastaut syndrome in tyrosinemia type 1
Silvana De Lucia, Samia Pichard, Adina Ilea, et al.
JIMD Reports
|
July 21, 2025
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile
Romain Penicaud, Jean-Baptiste Ferron, Xavier Valette, et al.
Molecular Genetics and Metabolism
|
June 20, 2026
Pediatric sleep-disordered breathing in Pompe disease in the era of enzyme replacement therapy: A retrospective cohort study
Vincent Lavoie, Samia Pichard, Juliette Bouchereau, et al.
Ebiomedicine
|
February 24, 2017
Paradoxical Inhibition of Glycolysis by Pioglitazone Opposes the Mitochondriopathy Caused by AIF Deficiency
Paule Bénit, Alice Pelhaître, Elise Saunier, et al.
Molecular Genetics and Metabolism Reports
|
April 18, 2025
Branched-chain amino acid transferase type 2 (BCAT2) deficiency: Report of an eighth case and literature review
Etienne Mondésert, Juliette Bouchereau, Manuel Schiff, et al.
Journal of Inherited Metabolic Disease
|
June 19, 2024
Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study
Quentin Salardaine, Natalia Shor, Nicolas Villain, et al.
Clinical Nutrition (Edinburgh, Scotland)
|
May 14, 2016
Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition
Laurent Béghin, Stéphanie Coopman, Manuel Schiff, et al.
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of 16