Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency-Reference-Cited by-同舟云学术

Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency

Published:2013 Issue:1 Volume:8 Page:102
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet Journal of Rare Diseases

Author:

Couce Maria,Sánchez-Pintos Paula,Diogo Luisa,Leão-Teles Elisa,Martins Esmeralda,Santos Helena,Bueno Maria,Delgado-Pecellín Carmen,Castiñeiras Daisy E,Cocho José A,García-Villoria Judit,Ribes Antonia,Fraga José M,Rocha Hugo

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Reference39 articles.

1. A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

2. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: A global perspective

3. Population spectrum ofACADMgenotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency

4. MCAD deficiency in Denmark

5. Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening

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1. Biochemical phenotyping of paroxysmal nocturnal hemoglobinuria reveals solute carriers and β-oxidation deficiencies;PLOS ONE;2023-08-01

2. Untargeted Metabolomics Identifies Biomarkers for MCADD Neonates in Dried Blood Spots;International Journal of Molecular Sciences;2023-06-02

3. Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation;Clinical Genetics;2023-03-13

4. Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment;Endocrinology, Diabetes & Metabolism;2022-10-27

5. ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency;Genes;2022-10-13