Open AccessLate onset form of Pompe disease
Author(s) -
Slavomíra Mattošová,
Anna Hlavatá,
Peter Špalek,
L. Kotysova,
Danka Maceková,
Ján Chandoga
Publication year - 2015
Publication title -
bratislavské lekárske listy/bratislava medical journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.387
H-Index - 32
eISSN - 1336-0345
pISSN - 0006-9248
DOI - 10.4149/bll_2015_097
Subject(s) - enzyme replacement therapy , glycogen storage disease type ii , compound heterozygosity , glycogen storage disease , heterozygote advantage , allele , substrate reduction therapy , disease , enzyme , medicine , mutation , restriction fragment length polymorphism , biology , genetics , gene , genotype , biochemistry
Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by deficiency in lysosomal enzyme α-glucosidase.
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