Muraoka, Tomie <br/><br/>
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] 

 -  Internal medicine (Tokyo, Japan)  2011 
 - 2987-91 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1349-7235 
<br/><br/><label>Standard No.: </label>10.2169/internalmedicine.50.5563  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Age of Onset<br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Base Sequence<br/>DNA Mutational Analysis<br/>Glucan 1,4-alpha-Glucosidase--genetics<br/>Glycogen Storage Disease Type II--complications<br/>Heterozygote<br/>Humans<br/>Intellectual Disability--complications<br/>Male<br/>Molecular Sequence Data<br/>Muscle, Skeletal--pathology<br/>Mutation, Missense<br/>Sequence Homology, Amino Acid