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Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
Human acid a-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.
The poor uptake of this oligosaccharide as a diagnostic marker for Pompe disease may be partly attributable to its occurrence in a range of other disorders, including glycogen storage diseases types III and VI (19) and Duchenne muscular dystrophy (20); increases in oligosaccharide concentrations may also take place during pregnancy (21).
Diarrhea episodes which worsen with age may be observed in patients with glycogen storage disease 1 (5).
The fact that glycogen storage disease 1 affects lipid and purin metabolism in addition to carbonhydrate metabolism is reflected with hyperlipidemia, hyperuricemia, hyperlactemia and increased liver enzymes in the laboratory tests.
Moderate growth retardation which is especially noted in the school age in glycogen storage disease 1 is a significant finding which is observed in most of the patients and short stature is common among adult patients (13,23,24).
Hepatic adenoma which is one of the long-term complications of glycogen storage disease 1 was found in two male patients in this study (a 17-year-old GSD 1a patient and a 20-year-old GSD 1b patient).
Glycogen storage disease type III diagnosis and management guidelines.
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb.
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.

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