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Publications by Bianca T. van Maldegem
Clinical, Biochemical, and Genetic Heterogeneity in Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency
JAMA - Journal of the American Medical Association
Medicine
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Biochemical Correction of Short-Chain Acyl-Coenzyme a Dehydrogenase Deficiency After Portal Vein Injection of rAAV8-SCAD
Human Gene Therapy
Molecular Medicine
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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
Medicine
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
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Perioperative Management of a Child With Very-Long-Chain Acyl-Coenzyme a Dehydrogenase Deficiency
Paediatric Anaesthesia
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Intravenous L-Carnitine and Acetyl-L-Carnitine in Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency and Isovaleric Acidemia
Pediatric Research
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Myogenic Disease and Metabolic Acidosis: Consider Multiple Acyl-Coenzyme a Dehydrogenase Deficiency
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MEDIUM CHAIN ACYL-CoA DEHYDROGENASE (MCD) DEFICIENCY
Pediatric Research
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Engineered Production of Short-Chain Acyl-Coenzyme a Esters in Saccharomyces Cerevisiae
