p.[G576S; E689K]: Pathogenic combination or polymorphism in Pompe disease?

European Journal of Human Genetics

Volumn 16, Issue 8, 2008, Pages 875-879

  Kroos, Marian A ^a   Mullaart, Reinier A ^b   Van Vliet, Laura ^a   Pomponio, Robert J ^c   Amartino, Hernan ^d   Kolodny, Edwin H ^e   Pastores, Gregory M ^e   Wevers, Ron A ^b   Van der Ploeg, Ans T ^a   Halley, Dicky J J ^a   Reuser, Arnold J J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c GENZYME CORPORATION   (United States)

^d Laboratory of Neurochemistry Ciudad Autonoma de Buenos Aires   (Argentina)

^e NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

ADOLESCENT; ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHINESE; CONGESTIVE HEART FAILURE; DISEASE ASSOCIATION; DNA DETERMINATION; ELECTROCARDIOGRAM; ENZYME ACTIVITY; FEMALE; GENE FREQUENCY; GENE SEQUENCE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 2; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; JAPANESE; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; ALPHA-GLUCOSIDASES; CELLS, CULTURED; CHILD; FEMALE; FIBROBLASTS; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HOMOZYGOTE; HUMANS; LEUKOCYTES; LYMPHOCYTES; MALE; MUSCLES; POLYMORPHISM, GENETIC;

EID: 48249139448     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.34     Document Type: Article

References (15)

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