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

Internal Medicine

Volumn 50, Issue 24, 2011, Pages 2987-2991

  Muraoka, Tomie ^a   Murao, Koji ^a   Imachi, Hitomi ^a   Kikuchi, Fumi ^a   Yoshimoto, Takuo ^a   Iwama, Hisakazu ^a   Hosokawa, Hitoshi ^b   Nishino, Ichizo ^c   Fukuda, Tokiko ^d   Sugie, Hideo ^d   Adachi, Kaori ^e   Nanba, Eiji ^e   Ishida, Toshihiko ^a  

^a KAGAWA UNIVERSITY   (Japan)

^b Social Insurance Ritsurin Hospital   (Japan)

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^d JICHI MEDICAL UNIVERSITY   (Japan)

^e TOTTORI UNIVERSITY   (Japan)

Author keywords

Enzyme replacement therapy (ERT); GAA missense mutation; Glycogen storage disease type II (Pompe disease); Impairment of intelligence

Indexed keywords

RECOMBINANT GLUCAN 1, 4 ALPHA GLUCOSIDASE; UNCLASSIFIED DRUG;

ADOLESCENT; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CASE REPORT; CHEMICAL ANALYSIS; CREATINE KINASE BLOOD LEVEL; GENE SEQUENCE; GENETIC ANALYSIS; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; INTELLIGENCE; JAPANESE; LABORATORY TEST; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; WECHSLER INTELLIGENCE SCALE;

ADOLESCENT; AGE OF ONSET; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; GLUCAN 1,4-ALPHA-GLUCOSIDASE; GLYCOGEN STORAGE DISEASE TYPE II; HETEROZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION, MISSENSE; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 83755173674     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.50.5563     Document Type: Article

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