Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. [electronic resource]
Producer: 20090522Description: 271-6 p. digitalISSN:- 0887-8994
- Adolescent
- Age of Onset
- Alleles
- Brain -- pathology
- Child
- Child Behavior Disorders -- etiology
- Child Development
- Child, Preschool
- Disease Progression
- Electrodiagnosis
- Electroencephalography
- Female
- Gene Deletion
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Membrane Proteins -- genetics
- Mutation -- physiology
- Neuronal Ceroid-Lipofuscinoses -- genetics
- Reverse Transcriptase Polymerase Chain Reaction
- Seizures -- etiology
- Sleep -- physiology
- Speech Disorders -- etiology
- Thiolester Hydrolases
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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