upstart 发表于 2025-3-25 06:09:25

GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in ,,on 2 of . could not be amplified by PCR, raising suspicion for a large, homozygous deletion. Subsequent copy number analysis confirmed a homozygous deletion of exon 2 in .. This is the first reported case of GM2A deficiency being caused by a whole exon deletion. We describe previously unreported ele

慌张 发表于 2025-3-25 07:53:38

,Effect of Lorenzo’s Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in ,Deficient Mictes hepatic peroxisomal fatty acid β-oxidation at the transcriptional level. In contrast, the transcriptional stimulation of . and . by Lorenzo’s oil does not cause changes in the serum fatty acid level. It seems likely that the inhibition of these elongation activities by Lorenzo’s oil results in a

Organization 发表于 2025-3-25 12:59:14

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addict 发表于 2025-3-25 16:07:26

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言行自由 发表于 2025-3-25 19:57:53

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intention 发表于 2025-3-26 03:54:45

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ENACT 发表于 2025-3-26 07:00:25

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不公开 发表于 2025-3-26 10:20:13

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photophobia 发表于 2025-3-26 14:41:29

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DRILL 发表于 2025-3-26 16:54:15

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查看完整版本: Titlebook: JIMD Reports, Volume 38; Eva Morava,Matthias Baumgartner,Verena Peters Book 2018 Society for the Study of Inborn Errors of Metabolism (SSI