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Publications by C. Acquaviva-Bourdain
Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme a Dehydrogenase Deficiency
Case Reports in Critical Care
Related publications
Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency
JAMA - Journal of the American Medical Association
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Perioperative Management of a Child With Very-Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency
Paediatric Anaesthesia
Child Health
Pediatrics
Anesthesiology
Pain Medicine
Perinatology
Identification of Two Variant Short Chain Acyl-Coenzyme a Dehydrogenase Alleles, Each Containing a Different Point Mutation in a Patient With Short Chain Acyl-Coenzyme a Dehydrogenase Deficiency.
Journal of Clinical Investigation
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FLAD1 ‐associated Multiple Acyl‐CoA Dehydrogenase Deficiency Identified by Newborn Screening
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Intravenous L-Carnitine and Acetyl-L-Carnitine in Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency and Isovaleric Acidemia
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Perinatology
Dihydropyrimidine Dehydrogenase Deficiency: Metabolic Disease or Biochemical Phenotype?
JIMD Reports
Internal Medicine
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Biochemical Correction of Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency After Portal Vein Injection of rAAV8-SCAD
Human Gene Therapy
Molecular Medicine
Genetics
Molecular Biology
Short Chain Acyl-CoA Dehydrogenase Deficiency
Genetic Deficiency of Short-Chain Acyl-Coenzyme a Dehydrogenase in Cultured Fibroblasts From a Patient With Muscle Carnitine Deficiency and Severe Skeletal Muscle Weakness.
Journal of Clinical Investigation
Medicine
