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Retrograde response to mitochondrial dysfunctions associated to LOF variations in exon 2: unraveling the importance of RFVT2.
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FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Mol Genet Genomic Med. 2019 Sep;7(9):e915. doi: 10.1002/mgg3.915. Epub 2019 Aug 8.
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Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.
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Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy.
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本文引用的文献

1
Retrograde response to mitochondrial dysfunctions associated to LOF variations in exon 2: unraveling the importance of RFVT2.
Free Radic Res. 2022 Jul-Aug;56(7-8):511-525. doi: 10.1080/10715762.2022.2146501. Epub 2022 Dec 8.
2
Mutation Spectrum of Primary Lipid Storage Myopathies.
Ann Indian Acad Neurol. 2022 Jan-Feb;25(1):106-113. doi: 10.4103/aian.aian_333_21. Epub 2022 Feb 1.
3
The SCARE 2020 Guideline: Updating Consensus Surgical CAse REport (SCARE) Guidelines.
Int J Surg. 2020 Dec;84:226-230. doi: 10.1016/j.ijsu.2020.10.034. Epub 2020 Nov 9.
5
Disorders of riboflavin metabolism.
J Inherit Metab Dis. 2019 Jul;42(4):608-619. doi: 10.1002/jimd.12058. Epub 2019 Mar 11.
7
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.
Neuromuscul Disord. 2018 Sep;28(9):787-790. doi: 10.1016/j.nmd.2018.05.009. Epub 2018 May 31.
8
Riboflavin transport and metabolism in humans.
J Inherit Metab Dis. 2016 Jul;39(4):545-57. doi: 10.1007/s10545-016-9950-0. Epub 2016 Jun 6.

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