NEEDY 发表于 2025-3-25 05:04:15

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军火 发表于 2025-3-25 08:57:42

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nitroglycerin 发表于 2025-3-25 12:46:55

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vertebrate 发表于 2025-3-25 17:39:24

Cobalamin D Deficiency Identified Through Newborn Screening,evelopmental delay. We provide detailed description of her presentation, her treatment, and her complications to aid in the understanding of this rare disorder, which is very similar to the more common cobalamin C disorder (cblC).

治愈 发表于 2025-3-25 22:29:42

Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties,firming the diagnosis. The c.630C>A p.(Asp210Glu) mutation has been reported in one previous patient, who also had a relatively mild phenotype (Ho et al., JIMD Rep 12:129–134, 2014). The mutation leads to a relatively conservative amino acid substitution, consistent with some residual enzyme activit

monopoly 发表于 2025-3-26 02:59:10

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抵押贷款 发表于 2025-3-26 06:56:59

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Ingest 发表于 2025-3-26 09:17:08

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sigmoid-colon 发表于 2025-3-26 13:59:07

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Haphazard 发表于 2025-3-26 19:23:19

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查看完整版本: Titlebook: JIMD Reports, Volume 44; Eva Morava,Matthias Baumgartner,Verena Peters Book 2019 Society for the Study of Inborn Errors of Metabolism (SSI