The genotype-phenotype correlation in Pompe disease

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 160 C, Issue 1, 2012, Pages 59-68

  Kroos, Marian ^a   Hoogeveen Westerveld, Marianne ^a   van der Ploeg, Ans ^a   Reuser, Arnold J J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Acid glucosidase deficiency; Acid maltase deficiency; Glycogenosis; Lysosomal storage disorder; Pompe disease

Indexed keywords

ARTICLE; DISEASE COURSE; DNA SEQUENCE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; GLYCOGEN STORAGE DISEASE TYPE 2; HAPLOTYPE; HUMAN; IMMUNOBLOTTING; LYSOSOME; POPULATION DENSITY; PRIORITY JOURNAL;

AGE OF ONSET; ALPHA-GLUCOSIDASES; GENETIC ASSOCIATION STUDIES; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HAPLOTYPES; HUMANS; MUTATION; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 84856210111     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31318     Document Type: Article

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