Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase ( MCAD ) deficiency: Are predictions possible?-Reference-Cited by-同舟云学术

Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase ( MCAD ) deficiency: Are predictions possible?

Published:2021-02-25 Issue:4 Volume:44 Page:916-925
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Tucci Sara¹^ORCID,Wagner Christine¹,Grünert Sarah C.¹,Matysiak Uta²,Weinhold Natalie³,Klein Jeannette⁴,Porta Francesco⁵,Spada Marco⁵,Bordugo Andrea⁶⁷,Rodella Giulia⁶⁷,Furlan Francesca⁸,Sajeva Anna⁸,Menni Francesca⁸,Spiekerkoetter Ute¹

Affiliation:

1. Department of General Pediatrics, Adolescent Medicine and Neonatology Medical Center ‐ University of Freiburg, Faculty of Medicine Freiburg Germany

2. Pediatric Genetics, Center for Pediatrics and Adolescent Medicine, Medical Centre ‐ University of Freiburg, Faculty of Medicine University of Freiburg Freiburg Germany

3. Charité‐Universitätsmedizin Berlin Corporate Member of Free University Berlin, Free University of Berlin, Humboldt University of Berlin, and Berlin Institute of Health, Center for Chronically Sick Children Berlin Germany

4. Newborn Screening Laboratory, Otto‐Heubner‐Center for Pediatrics and Adolescent Medicine, Charité‐Universitätsmedizin Berlin Berlin Germany

5. Department of Pediatrics, AOU Città della Salute e della Scienza di Torino University of Torino Turin Italy

6. Department of Mother and Child, Pediatric Clinic University Hospital of Verona Verona Italy

7. Inherited Metabolic Diseases Unit, Department of Paediatrics Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata Verona Italy

8. Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milan Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12368

Reference32 articles.

1. Mitochondrial fatty acid oxidation defects—remaining challenges

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

3. Allelic diversity in MCAD deficiency: The biochemical classification of 54 variants identified during 5years of ACADM sequencing

4. Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies

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