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Publications by Catharina ML Touw

In Vitro and in Vivo Consequences of Variant Medium-Chain Acyl-CoA Dehydrogenase Genotypes

Orphanet Journal of Rare Diseases

English

Related publications

MEDIUM CHAIN ACYL-CoA DEHYDROGENASE (MCD) DEFICIENCY

Pediatric Research

English

Immunochemical and Molecular Analysis of Medium-Chain Acyl CoA Dehydrogenase Deficiency.

Journal of Clinical Biochemistry and Nutrition

Clinical Biochemistry

English

Outcome of Medium Chain Acyl-CoA Dehydrogenase Deficiency After Diagnosis

Archives of Disease in Childhood

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Diagnosis of Medium Chain Acyl-Coa Dehydrogenase (MCAD) Deficiency in an Asymptomatic Neonate

Annals of Clinical Biochemistry

Clinical Biochemistry

English

Short Chain Acyl-CoA Dehydrogenase Deficiency

English

Evaluation of Newborn Screening for Medium Chain Acyl-CoA Dehydrogenase Deficiency in 275 000 Babies

Archives of Disease in Childhood: Fetal and Neonatal Edition

English

Screening for Medium Chain Acyl-CoA Dehydrogenase Deficiency Has Still Not Been Evaluated

English

Cost-Effectiveness Analysis of Universal Newborn Screening for Medium Chain Acyl-CoA Dehydrogenase Deficiency in France

English

Nucleotide Sequence of Medium-Chain Acyl-CoA Dehydrogenase mRNA and Its Expression in Enzyme-Deficient Human Tissue.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

English