Novel mutations in the gene encoding acid α-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence. [electronic resource]
Producer: 20120507Description: 2987-91 p. digitalISSN:- 1349-7235
- Adolescent
- Age of Onset
- Amino Acid Sequence
- Amino Acid Substitution
- Base Sequence
- DNA Mutational Analysis
- Glucan 1,4-alpha-Glucosidase -- genetics
- Glycogen Storage Disease Type II -- complications
- Heterozygote
- Humans
- Intellectual Disability -- complications
- Male
- Molecular Sequence Data
- Muscle, Skeletal -- pathology
- Mutation, Missense
- Sequence Homology, Amino Acid
No physical items for this record
Publication Type: Case Reports; Journal Article
There are no comments on this title.
Log in to your account to post a comment.