{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T13:58:59Z","timestamp":1761746339175,"version":"build-2065373602"},"reference-count":41,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T00:00:00Z","timestamp":1755907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T00:00:00Z","timestamp":1755907200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Endocrine"],"DOI":"10.1007\/s12020-025-04399-1","type":"journal-article","created":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T06:27:54Z","timestamp":1755930474000},"page":"639-651","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Identification of four novel ACADVL variants in eight Chinese unrelated patients with very long-chain acyl-CoA dehydrogenase deficiency"],"prefix":"10.1007","volume":"90","author":[{"given":"Liping","family":"Dong","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingting","family":"Niu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liangshan","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,8,23]]},"reference":[{"issue":"1","key":"4399_CR1","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1002\/jmd2.12061","volume":"49","author":"K Yamada","year":"2019","unstructured":"K. Yamada, K. Matsubara, Y. Matsubara, A. Watanabe, S. Kawakami, F. Ochi, K. Kuwabara, Y. Mushimoto, H. Kobayashi, Y. Hasegawa, S. Fukuda, S. Yamaguchi, T. Taketani, Clinical course in a patient with myopathic VLCAD deficiency during pregnancy with an affected baby. JIMD Rep. 49(1), 17\u201320 (2019). https:\/\/doi.org\/10.1002\/jmd2.12061","journal-title":"JIMD Rep."},{"key":"4399_CR2","doi-asserted-by":"publisher","first-page":"648493","DOI":"10.3389\/fgene.2021.648493","volume":"12","author":"ZI Remec","year":"2021","unstructured":"Z.I. Remec, U. Groselj, A. Drole Torkar, M. Zerjav Tansek, V. Cuk, D. Perko, B. Ulaga, N. Lipovec, M. Debeljak, J. Kovac, T. Battelino, R. Lampret, Very Long-Chain Acyl-CoA dehydrogenase deficiency: high incidence of detected patients with expanded newborn screening program. Front. Genet. 12, 648493 (2021). https:\/\/doi.org\/10.3389\/fgene.2021.648493","journal-title":"Front. Genet."},{"key":"4399_CR3","doi-asserted-by":"publisher","first-page":"63","DOI":"10.1007\/8904_2017_40","volume":"39","author":"B Merinero","year":"2018","unstructured":"B. Merinero, P. Alcaide, E. Martin-Hernandez, A. Morais, M.T. Garcia-Silva, P. Quijada-Fraile, C. Pedron-Giner, E. Dulin, R. Yahyaoui, J.M. Egea, A. Belanger-Quintana, J. Blasco-Alonso, M.L. Fernandez Ruano, B. Besga, I. Ferrer-Lopez, F. Leal, M. Ugarte, P. Ruiz-Sala, B. Perez, C. Perez-Cerda, Four years\u2019 experience in the diagnosis of very Long-Chain Acyl-CoA dehydrogenase deficiency in infants detected in three Spanish newborn screening centers. JIMD Rep. 39, 63\u201374 (2018). https:\/\/doi.org\/10.1007\/8904_2017_40","journal-title":"JIMD Rep."},{"key":"4399_CR4","doi-asserted-by":"publisher","unstructured":"L. Beatrice, L. Gaetana, C.P. Stefano, C. Filomena, D. Simona, R. Barbara, B. Enrica, P. Loris, P. Alessandro, F. Massimiliano, Juvenile-Onset recurrent rhabdomyolysis due to compound heterozygote variants in the ACADVL gene. Brain Sci. 13(8) (2023). https:\/\/doi.org\/10.3390\/brainsci13081178","DOI":"10.3390\/brainsci13081178"},{"key":"4399_CR5","doi-asserted-by":"publisher","unstructured":"J.C. Bleeker, I.L. Kok, S. Ferdinandusse, van der W.L. Pol, I. Cuppen, A.M. Bosch, M. Langeveld, T.G.J. Derks, M. Williams, de M. Vries, M.F. Mulder, E.R. de Gozalbo Sain, -van der M.G.M. Velden, A.J. Rennings, P. Schielen, E. Dekkers, R.H. Houtkooper, H.R. Waterham, M.L. Pras-Raves, R.J.A. Wanders, van P.M. Hasselt, M. Schoenmakers, F.A. Wijburg, G. Visser, Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes. J Inherit Metab Dis 42(3), 414\u2013423 (2019). https:\/\/doi.org\/10.1002\/jimd.12075","DOI":"10.1002\/jimd.12075"},{"key":"4399_CR6","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1016\/j.ymgmr.2018.05.003","volume":"16","author":"N Shibata","year":"2018","unstructured":"N. Shibata, Y. Hasegawa, K. Yamada, H. Kobayashi, J. Purevsuren, Y. Yang, V.C. Dung, N.N. Khanh, I.C. Verma, S. Bijarnia-Mahay, D.H. Lee, D.M. Niu, G.F. Hoffmann, Y. Shigematsu, T. Fukao, S. Fukuda, T. Taketani, S. Yamaguchi, Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: selective screening vs. expanded newborn screening. Mol. Genet. Metab. Rep. 16, 5\u201310 (2018). https:\/\/doi.org\/10.1016\/j.ymgmr.2018.05.003","journal-title":"Mol. Genet. Metab. Rep."},{"key":"4399_CR7","doi-asserted-by":"publisher","unstructured":"U. Jariya, N. Grace, J. John, L. Hans, Biochemical and molecular characteristics among infants with abnormal newborn screen for very-long-chain acyl-CoA dehydrogenase deficiency: A single center experience. Mol. Genet. Metab. Rep. 37(0) (2023). https:\/\/doi.org\/10.1016\/j.ymgmr.2023.101002","DOI":"10.1016\/j.ymgmr.2023.101002"},{"issue":"2","key":"4399_CR8","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1038\/s10038-018-0527-7","volume":"64","author":"K Yamada","year":"2019","unstructured":"K. Yamada, T. Taketani, Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency. J. Hum. Genet. 64(2), 73\u201385 (2019). https:\/\/doi.org\/10.1038\/s10038-018-0527-7","journal-title":"J. Hum. Genet."},{"key":"4399_CR9","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1007\/8904_2017_58","volume":"40","author":"A Obaid","year":"2018","unstructured":"A. Obaid, M. Nashabat, M. Alfadhel, A. Alasmari, F. Al Mutairi, A. Alswaid, E. Faqeih, A. Mushiba, M. Albanyan, M. Alalwan, D. Marsden, W. Eyaid, Clinical, biochemical, and molecular features in 37 Saudi patients with very long chain acyl coa dehydrogenase deficiency. JIMD Rep. 40, 47\u201353 (2018). https:\/\/doi.org\/10.1007\/8904_2017_58","journal-title":"JIMD Rep."},{"issue":"3","key":"4399_CR10","doi-asserted-by":"publisher","first-page":"317","DOI":"10.1007\/s10545-017-0016-8","volume":"40","author":"S Tucci","year":"2017","unstructured":"S. Tucci, Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models. J. Inherit. Metab. Dis. 40(3), 317\u2013323 (2017). https:\/\/doi.org\/10.1007\/s10545-017-0016-8","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"4399_CR11","doi-asserted-by":"publisher","first-page":"590","DOI":"10.15537\/smj.2020.6.25131","volume":"41","author":"A Alhashem","year":"2020","unstructured":"A. Alhashem, S. Mohamed, M. Abdelraheem, B. AlGufaydi, A. Al-Aqeel, Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia. Saudi Med. J. 41(6), 590\u2013596 (2020). https:\/\/doi.org\/10.15537\/smj.2020.6.25131","journal-title":"Saudi Med. J."},{"key":"4399_CR12","doi-asserted-by":"publisher","unstructured":"S. Wai-Kwan, M. Chloe Miu, S. Luen-Yee, S. Tak-Shing, S. Chun-Yin, P. Ching-Wan, L. Ngan-Shan, K.A. Yan-Wo, Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening. Diagn. Mol. Pathol. 21(3) (2012). https:\/\/doi.org\/10.1097\/PDM.0b013e31825554d0","DOI":"10.1097\/PDM.0b013e31825554d0"},{"key":"4399_CR13","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1016\/s0022-3476(99)70030-2","volume":"135","author":"S Hahn","year":"1999","unstructured":"S. Hahn, E. Lee, J. Jung, C. Hong, H. Yoon, P. Rinaldo, H. Sims, B. Gibson, A. Strauss, Very long chain acyl coenzyme A dehydrogenase deficiency in a 5-month-old Korean boy: identification of a novel mutation. J. Pediatr. 135, 250\u2013253 (1999). https:\/\/doi.org\/10.1016\/s0022-3476(99)70030-2","journal-title":"J. Pediatr."},{"issue":"1","key":"4399_CR14","first-page":"97","volume":"58","author":"M Souri","year":"1996","unstructured":"M. Souri, T. Aoyama, K. Orii, S. Yamaguchi, T. Hashimoto, Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. Am. J. Hum. Genet. 58(1), 97\u2013106 (1996)","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"4399_CR15","first-page":"97","volume":"46","author":"K Jung Min","year":"2016","unstructured":"K. Jung Min, S. Jieun, C. Murim, S. Junghan, L. Kyung-A, C. Ho, S.: Rare Korean cases of Very-long-chain Acyl-CoA dehydrogenase deficiency with a novel recurrent mutation. Ann. Clin. Lab. Sci. 46(1), 97-101 (2016)","journal-title":"Ann. Clin. Lab. Sci"},{"key":"4399_CR16","doi-asserted-by":"publisher","first-page":"218","DOI":"10.1016\/j.cca.2019.11.034","volume":"503","author":"X Li","year":"2020","unstructured":"X. Li, R. Ma, Y. Liu, L. Kang, R. He, J. Song, J. Ren, Y. Li, M. Huang, J. Men, Y. Yang, One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency. Clin. Chim. Acta. 503, 218\u2013222 (2020). https:\/\/doi.org\/10.1016\/j.cca.2019.11.034","journal-title":"Clin. Chim. Acta"},{"key":"4399_CR17","doi-asserted-by":"publisher","unstructured":"F. T, Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese Girl. Pediatr. Res. 49(2) (2001). https:\/\/doi.org\/10.1203\/00006450-200102000-00016","DOI":"10.1203\/00006450-200102000-00016"},{"issue":"1","key":"4399_CR18","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1186\/s12887-018-1069-z","volume":"18","author":"E Kang","year":"2018","unstructured":"E. Kang, Y.M. Kim, M. Kang, S.H. Heo, G.H. Kim, I.H. Choi, J.H. Choi, H.W. Yoo, B.H. Lee, Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening. BMC Pediatr. 18(1), 103 (2018). https:\/\/doi.org\/10.1186\/s12887-018-1069-z","journal-title":"BMC Pediatr."},{"key":"4399_CR19","doi-asserted-by":"publisher","first-page":"1433160","DOI":"10.3389\/fgene.2024.1433160","volume":"15","author":"L Li","year":"2024","unstructured":"L. Li, Y. Tang, J. Zhao, L. Gong, N. Yang, S. Wang, H. Yang, Y. Kong, Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families. Front. Genet. 15, 1433160 (2024). https:\/\/doi.org\/10.3389\/fgene.2024.1433160","journal-title":"Front. Genet."},{"issue":"2","key":"4399_CR20","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1007\/s12519-014-0480-2","volume":"10","author":"RN Zhang","year":"2014","unstructured":"R.N. Zhang, Y.F. Li, W.J. Qiu, J. Ye, L.S. Han, H.W. Zhang, N. Lin, X.F. Gu, Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency. World J. Pediatr. 10(2), 119\u2013125 (2014). https:\/\/doi.org\/10.1007\/s12519-014-0480-2","journal-title":"World J. Pediatr."},{"issue":"3","key":"4399_CR21","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1016\/j.ejmg.2015.01.005","volume":"58","author":"X Li","year":"2015","unstructured":"X. Li, Y. Ding, Y. Ma, Y. Liu, Q. Wang, J. Song, Y. Yang, Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis. Eur. J. Med. Genet. 58(3), 134\u2013139 (2015). https:\/\/doi.org\/10.1016\/j.ejmg.2015.01.005","journal-title":"Eur. J. Med. Genet."},{"issue":"11","key":"4399_CR22","doi-asserted-by":"publisher","first-page":"2257","DOI":"10.1111\/ene.14402","volume":"27","author":"F Fatehi","year":"2020","unstructured":"F. Fatehi, A.A. Okhovat, Y. Nilipour, M. Mroczek, V. Straub, A. Topf, A. Palibrk, S. Peric, R. Stojanovic, V. Najmabadi, H. Nafissi, Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD). Eur. J. Neurol. 27(11), 2257\u20132266 (2020). https:\/\/doi.org\/10.1111\/ene.14402","journal-title":"Eur. J. Neurol."},{"issue":"3","key":"4399_CR23","doi-asserted-by":"publisher","first-page":"1369","DOI":"10.1006\/bbrc.1993.1368","volume":"191","author":"T Aoyama","year":"1993","unstructured":"T. Aoyama, Y. Uchida, R. Kelley, M. Marble, K. Hofman, J. Tonsgard, W. Rhead, T. Hashimoto, A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem. Biophys. Res. Commun. 191(3), 1369\u20131372 (1993). https:\/\/doi.org\/10.1006\/bbrc.1993.1368","journal-title":"Biochem. Biophys. Res. Commun."},{"issue":"2","key":"4399_CR24","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/s0887-8994(99)00132-0","volume":"22","author":"R Pons","year":"2000","unstructured":"R. Pons, P. Cavadini, S. Baratta, F. Invernizzi, E. Lamantea, B. Garavaglia, F. Taroni, Clinical and molecular heterogeneity in very-long-chain acyl-coenzyme A dehydrogenase deficiency. Pediatr. Neurol. 22(2), 98\u2013105 (2000). https:\/\/doi.org\/10.1016\/s0887-8994(99)00132-0","journal-title":"Pediatr. Neurol."},{"issue":"5","key":"4399_CR25","doi-asserted-by":"publisher","first-page":"324","DOI":"10.1016\/j.nmd.2009.02.007","volume":"19","author":"P Laforet","year":"2009","unstructured":"P. Laforet, C. Acquaviva-Bourdain, O. Rigal, M. Brivet, I. Penisson-Besnier, B. Chabrol, D. Chaigne, O. Boespflug-Tanguy, C. Laroche, A.L. Bedat-Millet, A. Behin, I. Delevaux, A. Lombes, B.S. Andresen, B. Eymard, C. Vianey-Saban, Diagnostic assessment and long-term follow-up of 13 patients with very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul. Disord. 19(5), 324\u2013329 (2009). https:\/\/doi.org\/10.1016\/j.nmd.2009.02.007","journal-title":"Neuromuscul. Disord"},{"issue":"4","key":"4399_CR26","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1620\/tjem.235.305","volume":"235","author":"S Hisahara","year":"2015","unstructured":"S. Hisahara, T. Matsushita, H. Furuyama, G. Tajima, Y. Shigematsu, T. Imai, S. Shimohama, A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis. Tohoku J. Exp. Med. 235(4), 305\u2013310 (2015). https:\/\/doi.org\/10.1620\/tjem.235.305","journal-title":"Tohoku J. Exp. Med."},{"issue":"6","key":"4399_CR27","doi-asserted-by":"publisher","first-page":"166100","DOI":"10.1016\/j.bbadis.2021.166100","volume":"1867","author":"M Lund","year":"2021","unstructured":"M. Lund, K.G. Andersen, R. Heaton, I.P. Hargreaves, N. Gregersen, R.K.J. Olsen, Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency. Biochim. Biophys. Acta Mol. Basis Dis. 1867(6), 166100 (2021). https:\/\/doi.org\/10.1016\/j.bbadis.2021.166100","journal-title":"Biochim. Biophys. Acta Mol. Basis Dis."},{"issue":"4","key":"4399_CR28","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1016\/j.ymgme.2016.05.007","volume":"118","author":"LD Pena","year":"2016","unstructured":"L.D. Pena, van S.C. Calcar, J. Hansen, M.J. Edick, C. Walsh Vockley, N. Leslie, C. Cameron, A.W. Mohsen, S.A. Berry, G.L. Arnold, J. Vockley, Ibemc: outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. Mol. Genet. Metab. 118(4), 272\u2013281 (2016). https:\/\/doi.org\/10.1016\/j.ymgme.2016.05.007","journal-title":"Mol. Genet. Metab."},{"issue":"3","key":"4399_CR29","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1097\/PDM.0b013e31825554d0","volume":"21","author":"W Siu","year":"2012","unstructured":"W. Siu, C. Mak, S. Siu, T. Siu, C. Pang, C. Lam, N. Kwong, A. Chan, Molecular diagnosis for a fatal case of very long-chain acyl-CoA dehydrogenase deficiency in Hong Kong Chinese with a novel mutation: a preventable death by newborn screening. Diagnostic molecular pathology: the American journal of surgical pathology. part. B 21(3), 184\u2013187 (2012). https:\/\/doi.org\/10.1097\/PDM.0b013e31825554d0","journal-title":"part. B"},{"issue":"21","key":"4399_CR30","doi-asserted-by":"publisher","first-page":"2729","DOI":"10.2169\/internalmedicine.4604-20","volume":"59","author":"Y Fuseya","year":"2020","unstructured":"Y. Fuseya, T. Sakurai, J.I. Miyahara, K. Sato, S. Kaji, Y. Saito, M. Takahashi, I. Nishino, T. Fukuda, H. Sugie, H. Yamashita, Adult-onset repeat rhabdomyolysis with a very Long-chain Acyl-CoA dehydrogenase deficiency due to compound heterozygous ACADVL mutations. Intern. Med. 59(21), 2729\u20132732 (2020). https:\/\/doi.org\/10.2169\/internalmedicine.4604-20","journal-title":"Intern. Med."},{"key":"4399_CR31","doi-asserted-by":"publisher","unstructured":"S. Sharma, M. McKenzie, The pathogenesis of very Long-Chain Acyl-CoA dehydrogenase deficiency. Biomolecules. 15(3) (2025). https:\/\/doi.org\/10.3390\/biom15030416","DOI":"10.3390\/biom15030416"},{"key":"4399_CR32","doi-asserted-by":"publisher","first-page":"101184","DOI":"10.1016\/j.ymgmr.2024.101184","volume":"42","author":"W Zhou","year":"2025","unstructured":"W. Zhou, H. Li, L. Yang, Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant. Mol. Genet. Metab. Rep. 42, 101184 (2025). https:\/\/doi.org\/10.1016\/j.ymgmr.2024.101184","journal-title":"Mol. Genet. Metab. Rep."},{"issue":"8","key":"4399_CR33","doi-asserted-by":"publisher","first-page":"558","DOI":"10.1038\/jp.2009.198","volume":"30","author":"H Mendez-Figueroa","year":"2010","unstructured":"H. Mendez-Figueroa, O.A. Shchelochkov, A. Shaibani, K. Aagaard-Tillery, M.S. Shinawi, Clinical and biochemical improvement of very long-chain acyl-CoA dehydrogenase deficiency in pregnancy. J. Perinatol. 30(8), 558\u2013562 (2010). https:\/\/doi.org\/10.1038\/jp.2009.198","journal-title":"J. Perinatol."},{"issue":"4","key":"4399_CR34","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1023\/a:1025163204165","volume":"26","author":"N Oey","year":"2003","unstructured":"N. Oey, den M. Boer, J. Ruiter, R. Wanders, M. Duran, H. Waterham, K. Boer, van der J. Post, F. Wijburg, High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease. J. Inherit. Metab. Dis. 26(4), 385\u2013392 (2003). https:\/\/doi.org\/10.1023\/a:1025163204165","journal-title":"J. Inherit. Metab. Dis."},{"issue":"6","key":"4399_CR35","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1016\/j.nmd.2021.03.015","volume":"31","author":"HT Akar","year":"2021","unstructured":"H.T. Akar, M. Cagan, Y. Yildiz, H.S. Sivri, Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul. Disord. 31(6), 566\u2013569 (2021). https:\/\/doi.org\/10.1016\/j.nmd.2021.03.015","journal-title":"Neuromuscul. Disord"},{"key":"4399_CR36","doi-asserted-by":"publisher","first-page":"100760","DOI":"10.1016\/j.ymgmr.2021.100760","volume":"27","author":"R Bo","year":"2021","unstructured":"R. Bo, H. Awano, K. Yamada, M. Ooi, Y. Okata, Y. Bitoh, S. Mizobuchi, K. Iijima, The perioperative transition of serum biomarkers of a 1.5-year-old Boy with very-long-chain acyl-CoA dehydrogenase deficiency. Mol. Genet. Metab. Rep. 27, 100760 (2021). https:\/\/doi.org\/10.1016\/j.ymgmr.2021.100760","journal-title":"Mol. Genet. Metab. Rep."},{"key":"4399_CR37","doi-asserted-by":"publisher","unstructured":"J.C. Bleeker, I.L. Kok, S. Ferdinandusse, de M. Vries, T.G.J. Derks, M.F. Mulder, M. Williams, E.R. Gozalbo, A.M. Bosch, van den D.T. Hurk Sain, -van der M.G.M. Velden, H.R. Waterham, F.A. Wijburg, G. Visser, Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 42(1), 159\u2013168 (2019). https:\/\/doi.org\/10.1002\/jimd.12037","DOI":"10.1002\/jimd.12037"},{"issue":"4","key":"4399_CR38","doi-asserted-by":"publisher","first-page":"472","DOI":"10.3724\/zdxbyxb-2021-0259","volume":"50","author":"C Yang","year":"2021","unstructured":"C. Yang, C. Shi, C. Zhou, Q. Wan, Y. Zhou, X. Chen, X. Jin, C. Huang, P. Xu, Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in jining, Shandong province. Zhejiang Da Xue Xue bao. Yi Xue ban\u2009=\u2009journal of Zhejiang university. Med. Sci. 50(4), 472\u2013480 (2021). https:\/\/doi.org\/10.3724\/zdxbyxb-2021-0259","journal-title":"Med. Sci."},{"key":"4399_CR39","doi-asserted-by":"publisher","first-page":"e34","DOI":"10.1016\/j.forsciint.2014.08.031","volume":"244","author":"Y Takahashi","year":"2014","unstructured":"Y. Takahashi, R. Sano, T. Nakajima, Y. Kominato, R. Kubo, K. Takahashi, N. Ohshima, T. Hirano, S. Kobayashi, T. Shimada, H. Tokue, S. Awata, S. Hirasawa, T. Ishige, Combination of postmortem mass spectrometry imaging and genetic analysis reveals very long-chain acyl-CoA dehydrogenase deficiency in a case of infant death with liver steatosis. Forensic Sci. Int. 244, e34\u2013e37 (2014). https:\/\/doi.org\/10.1016\/j.forsciint.2014.08.031","journal-title":"Forensic Sci. Int."},{"issue":"3","key":"4399_CR40","doi-asserted-by":"publisher","first-page":"139","DOI":"10.1016\/j.ymgme.2015.08.011","volume":"116","author":"MJ Miller","year":"2015","unstructured":"M.J. Miller, L.C. Burrage, J.B. Gibson, M.E. Strenk, E.J. Lose, D.P. Bick, S.H. Elsea, V.R. Sutton, Q. Sun, B.H. Graham, W.J. Craigen, V.W. Zhang, L.-J.C. Wong, Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the united States. Mol. Genet. Metab. 116(3), 139\u2013145 (2015). https:\/\/doi.org\/10.1016\/j.ymgme.2015.08.011","journal-title":"Mol. Genet. Metab."},{"issue":"2","key":"4399_CR41","doi-asserted-by":"publisher","first-page":"146","DOI":"10.1002\/jmd2.12265","volume":"63","author":"\u00c1 Mart\u00edn-Rivada","year":"2022","unstructured":"\u00c1. Mart\u00edn-Rivada, P. P\u00e9rez, L. Ruiz\u2010Sala, P. Navarrete, R. Cambra Conejero, A. Quijada Fraile, P. Mor\u00e1is L\u00f3pez, A. Belanger\u2010Quintana, A. Mart\u00edn\u2010Hern\u00e1ndez, E. Bellusci, M. Ca\u00f1edo, E. Villaroya, C. Calzada, S. Garc\u00eda Silva, M.T. Bergua, A. Mart\u00ednez, S. Stanescu, M. Mart\u00ednez\u2010Pardo Casanova, M.L.F. Ruano, M. Ugarte, B. P\u00e9rez, C. Pedr\u00f3n\u2010Giner, Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region. JIMD Rep. 63(2), 146\u2013161 (2022). https:\/\/doi.org\/10.1002\/jmd2.12265","journal-title":"JIMD Rep."}],"container-title":["Endocrine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-025-04399-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12020-025-04399-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12020-025-04399-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T11:08:01Z","timestamp":1761736081000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12020-025-04399-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,23]]},"references-count":41,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2025,11]]}},"alternative-id":["4399"],"URL":"https:\/\/doi.org\/10.1007\/s12020-025-04399-1","relation":{},"ISSN":["1559-0100"],"issn-type":[{"type":"electronic","value":"1559-0100"}],"subject":[],"published":{"date-parts":[[2025,8,23]]},"assertion":[{"value":"9 April 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 August 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 August 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Informed consent was obtained from all individuals included in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}},{"value":"This study was approved by the ethics committee of Zibo Maternal and Child Health Hospital (ZBFY#2021-12-15) and Shandong Provincial Maternal and Child Health Hospital (SFY#20250336).","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}]}}