Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation. [electronic resource]
Producer: 20070530Description: 1050-61 p. digitalISSN:- 1460-2156
- Adolescent
- Adult
- Age of Onset
- Base Sequence
- Central Nervous System Diseases -- complications
- Child
- Child, Preschool
- Cognition Disorders -- complications
- Electroencephalography -- methods
- Family Health
- Female
- Fluorescein Angiography -- methods
- Genotype
- Humans
- Infant
- Macula Lutea -- pathology
- Male
- Mental Disorders -- complications
- Mutation
- Niemann-Pick Diseases -- complications
- Peripheral Nervous System Diseases -- complications
- Phenotype
- Sphingomyelin Phosphodiesterase -- deficiency
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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