Very long‐chain <scp>acyl‐CoA</scp> dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics-Reference-Cited by-同舟云学术

Very long‐chain acyl‐CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics

Published:2022-01-09 Issue:2 Volume:63 Page:181-190
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Olsson David¹^ORCID,Barbaro Michela²³,Haglind Charlotte¹,Halldin Maria¹,Lajic Svetlana¹,Tucci Sara⁴,Zetterström Rolf H.²³,Nordenström Anna¹²

Affiliation:

1. Department of Women's and Children's Health, Unit for Pediatric Endocrinology and Metabolic Disorders Karolinska Institutet/Karolinska University Hospital Stockholm Sweden

2. Center for Inherited Metabolic Diseases, CMMS Karolinska University Hospital Stockholm Sweden

3. Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden

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

Funder

Stiftelsen Frimurare Barnhuset i Stockholm

Stiftelsen Sven Jerrings Fond

Stockholms Läns Landsting

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12268

Reference32 articles.

1. A Novel Disease with Deficiency of Mitochondrial Very-Long-Chain Acyl-CoA Dehydrogenase

2. Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

3. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients

4. Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data

5. Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

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