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From clinical practice to mechanistic insights in ketogenic diets for epilepsy. [PDF]
Lancet NeurolFigueroa AG, Joshi CN, Patel MN.
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Inborn errors of pyruvate metabolism
Biochemical Society Transactions, 1983Robinson Brian H
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Pediatric clinics of North America, 2018
When a child presents with high-anion gap metabolic acidosis, the pediatrician can proceed with confidence by recalling some basic principles. Defects of organic acid, pyruvate, and ketone body metabolism that present with acute acidosis are reviewed. Flowcharts for identifying the underlying cause and initiating life-saving therapy are provided.
Lori-Anne P, Schillaci +2 more
openaire +1 more source
When a child presents with high-anion gap metabolic acidosis, the pediatrician can proceed with confidence by recalling some basic principles. Defects of organic acid, pyruvate, and ketone body metabolism that present with acute acidosis are reviewed. Flowcharts for identifying the underlying cause and initiating life-saving therapy are provided.
Lori-Anne P, Schillaci +2 more
openaire +1 more source
Antibody responses to the SARS-CoV-2 vaccine in individuals with various inborn errors of immunity
Journal of Allergy and Clinical Immunology, 2021David Mcdermott +2 more
exaly
Extended Risk of Mortality in Children with Inborn Errors of Metabolism: A Longitudinal Cohort Study
Journal of Pediatrics, 2023Nathalie Auger +2 more
exaly