{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,22]],"date-time":"2026-03-22T00:27:46Z","timestamp":1774139266891,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","license":[{"start":{"date-parts":[[2023,7,25]],"date-time":"2023-07-25T00:00:00Z","timestamp":1690243200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82073560"],"award-info":[{"award-number":["82073560"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2023,7,25]]},"abstract":"<jats:p>Fatty acid oxidation disorders (FAODs) are a group of rare, autosomal recessive, metabolic disorders with clinical symptoms from mild types of fatigue, muscle weakness to severe types of hypoketotic hypoglycemia, (cardio)myopathy, arrhythmia, and rhabdomyolysis, especially during prolonged fasting, exercise, and illness. There are eleven diseases caused by thirteen FAOD genes (SLC22A5, ETFDH, ETFA, ETFB, SLC25A20, ACADS, ACADM, ACADVL, ACAT1, CPT1A, CPT2, HADHA, and HADHB) which are specific enzymes or transport proteins involved in the mitochondrial catabolism of fatty acids. We built the LOVD database for FAODs focused on the Chinese population, in which we recorded all the reported variants by literature peer review. In addition, the unpublished variant data of patients from Zhejiang province were also incorporated into the database. Currently, a total of 538 unique variants have been recorded. We also compared the incidence of high-frequency variants of certain FAOD genes among different populations. The database would provide the guidance for genetic screening of Chinese patients.<\/jats:p>","DOI":"10.1155\/2023\/5493978","type":"journal-article","created":{"date-parts":[[2023,7,25]],"date-time":"2023-07-25T18:05:52Z","timestamp":1690308352000},"page":"1-8","source":"Crossref","is-referenced-by-count":1,"title":["A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations"],"prefix":"10.1155","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1154-2051","authenticated-orcid":true,"given":"Ting","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-5361-7981","authenticated-orcid":true,"given":"Zinan","family":"Yu","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8442-0579","authenticated-orcid":true,"given":"Lingwei","family":"Hu","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-1976-4073","authenticated-orcid":true,"given":"Chao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8967-4815","authenticated-orcid":true,"given":"Haixia","family":"Miao","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1464-2226","authenticated-orcid":true,"given":"Rulai","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8421-6727","authenticated-orcid":true,"given":"Ming","family":"Qi","sequence":"additional","affiliation":[{"name":"Assisted Reproduction Unit, Department of Obstetrics and Gynecology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China"},{"name":"DIAN Diagnostics, Hangzhou, Zhejiang, China"},{"name":"Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4126-7468","authenticated-orcid":true,"given":"Benqing","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Neonatology, Children\u2019s Medical Center, University of Chinese Academy of Science, Shenzhen Hospital, Shenzhen, Guangdong, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1124-7044","authenticated-orcid":true,"given":"Xinwen","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolism, Children\u2019s Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-010-9076-8"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2018.05.003"},{"issue":"3","key":"3","first-page":"248","article-title":"Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up","volume":"46","author":"J. 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