Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. [electronic resource]
Producer: 20070510Description: 1369-73 p. digitalISSN:- 1526-632X
- 1,4-alpha-Glucan Branching Enzyme -- genetics
- Biopsy
- Brain -- pathology
- Carrier Proteins -- genetics
- Child
- Codon, Nonsense
- Diagnosis, Differential
- Disease Progression
- Dwarfism -- etiology
- Electroencephalography
- Exons -- genetics
- Glycogen Storage Disease Type IV -- diagnosis
- Humans
- Infant
- Lafora Disease -- complications
- Liver -- pathology
- Liver Cirrhosis -- etiology
- Liver Failure -- etiology
- Liver Transplantation
- Magnetic Resonance Imaging
- Male
- Microsatellite Repeats
- Mutation, Missense
- Pedigree
- Periodic Acid-Schiff Reaction
- Phenotype
- Point Mutation
- Polymorphism, Single-Stranded Conformational
- Protein Tyrosine Phosphatases -- genetics
- Protein Tyrosine Phosphatases, Non-Receptor
- Skin -- pathology
- Spain
- Ubiquitin-Protein Ligases
No physical items for this record
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.