NEEDY 发表于 2025-3-25 05:04:15
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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 activitmonopoly 发表于 2025-3-26 02:59:10
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