Genetic defects in bile acid conjugation cause fat-soluble vitamin deficiency. [electronic resource]
Producer: 20130611Description: 945-955.e6; quiz e14-5 p. digitalISSN:- 1528-0012
- Acyltransferases -- genetics
- Avitaminosis -- genetics
- Bile Acids and Salts -- metabolism
- Biopsy
- Child
- Child, Preschool
- Coenzyme A Ligases -- genetics
- DNA -- genetics
- DNA Mutational Analysis
- Fatty Acid Transport Proteins -- genetics
- Female
- Genetic Predisposition to Disease
- Homozygote
- Humans
- Infant
- Liver -- pathology
- Male
- Mass Spectrometry
- Mutation, Missense
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Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural
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