Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. [electronic resource]
Producer: 20180801Description: 76-84 p. digitalISSN:- 1096-7206
- California
- Cardiomyopathies -- blood
- Carnitine -- analysis
- Dried Blood Spot Testing
- False Positive Reactions
- Female
- Fibroblasts -- physiology
- Humans
- Hyperammonemia -- blood
- Infant, Newborn
- Limit of Detection
- Male
- Mothers
- Muscular Diseases -- blood
- Mutation
- Neonatal Screening -- methods
- Sequence Analysis, DNA
- Solute Carrier Family 22 Member 5 -- deficiency
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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