Molecular diagnosis of German patients with late-onset glycogen storage disease type II

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Joshi, P R ^a,f   Glaser D ^b   Schmidt, S ^c   Vorgerd, M ^d   Winterholler, M ^e   Eger, K ^a   Zierz, S ^a   Deschauer, M ^a  

^a MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

^b Gregor Mendel Laboratories   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d RUHR UNIVERSITY BOCHUM   (Germany)

^e Neurologische Klinik   (Germany)

^f MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLUCOSIDASE; GAA PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; CASE CONTROL STUDY; CLINICAL TRIAL; ENZYMOLOGY; ETHNOLOGY; EXON; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; GERMANY; GLYCOGEN STORAGE DISEASE TYPE 2; HETEROZYGOTE; HUMAN; INTRON; MALE; METHODOLOGY; MIDDLE AGED; MULTICENTER STUDY; MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE;

ADULT; AGE OF ONSET; AGED; ALPHA-GLUCOSIDASES; CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERMANY; GLYCOGEN STORAGE DISEASE TYPE II; HETEROZYGOTE; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; YOUNG ADULT;

EID: 84855569362     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0820-2     Document Type: Article

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