Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.

European journal of human genetics : EJHG - 1 Sept 1999

Ausems M G, Verbiest J, Hermans M P, Kroos M A, Beemer F A, Wokke J H, Sandkuijl L A, Reuser A J, van der Ploeg A T

Abstract excerpt

Glycogen storage disease type II (GSD H) is an autosomal recessive myopathy. Early and late-onset phenotypes are distinguished - infantile, juvenile and adult. Three mutations in the acid alpha-glucosidase gene are common in the Dutch patient population: IVS1(-13T-->G), 525delT and delexon18. 63% of Dutch GSD II patients carry one or two of these mutations, and the genotype-phenotype correlation is known. To...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Gene Deletion
Share to Genetic Counseling

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Glycogen Storage Disease Type II

Share to Infant, Newborn

Share to Netherlands

Share to Penetrance

Share to Point Mutation

Share to Prevalence

Source

Identifiers

PMID: 10482961
DOI: 10.1038/sj.ejhg.5200367

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.PMID 10482961Read ↗

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation.Semantic proximity Read ↗

Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.Semantic proximity Read ↗

Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.Semantic proximity Read ↗

Molecular diagnosis of German patients with late-onset glycogen storage disease type II.Semantic proximity Read ↗

Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT).Semantic proximity Read ↗

A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).Semantic proximity Read ↗

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).Semantic proximity Read ↗

[Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].Semantic proximity Read ↗

Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha-glucosidase gene.Semantic proximity Read ↗

Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.Semantic proximity Read ↗

High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese populationSemantic proximity Read ↗

A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.