Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature. [electronic resource]
Producer: 20100305Description: 1513-9 p. digitalISSN:- 1708-8283
- Amino Acid Substitution -- genetics
- Central Nervous System -- metabolism
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genetic Markers -- genetics
- Genetic Predisposition to Disease -- genetics
- Genetic Testing
- Genotype
- Humans
- Infant
- Leukodystrophy, Metachromatic -- genetics
- Male
- Mutation -- genetics
- Saudi Arabia
- Sphingolipid Activator Proteins -- deficiency
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Publication Type: Case Reports; Journal Article; Review
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