Combined <scp>isobutyryl‐CoA</scp> and multiple <scp>acyl‐CoA</scp> dehydrogenase deficiency in a boy with altered riboflavin homeostasis-Reference-Cited by-同舟云学术

Combined isobutyryl‐CoA and multiple acyl‐CoA dehydrogenase deficiency in a boy with altered riboflavin homeostasis

Published:2022-05-07 Issue:4 Volume:63 Page:276-291
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Tummolo Albina¹,Leone Piero²,Tolomeo Maria²,Solito Rita²,Mattiuzzo Matteo³,Lepri Francesca Romana³,Lorè Tania⁴,Cardinali Roberta⁴,De Giovanni Donatella¹,Simonetti Simonetta⁴,Barile Maria²

Affiliation:

1. Metabolic Diseases and Clinical Genetics Unit Children's Hospital “Giovanni XXIII” Bari Italy

2. Department of Biosciences, Biotechnology and Biopharmaceutics University of Bari “A. Moro” Bari Italy

3. Laboratory of Medical Genetics Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital Rome Italy

4. Regional Centre for Neonatal Screening Children's Hospital “Giovanni XXIII” Bari Italy

Publisher

Wiley

Subject

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

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12292

Reference57 articles.

1. Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

2. Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme.

3. Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease

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