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

Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.

Human mutation - 1 Jan 1999

Raben N, Lee E, Lee L, Hirschhorn R, Plotz P H

Abstract excerpt

The infantile form of GSD II (an inherited deficiency of the lysosomal enzyme, acid alpha-glucosidase, Pompe disease) is a severe and invariably fatal disease characterized by a rapidly progressive generalized hypotonia, hepatomegaly, and cardiomegaly. We have recently demonstrated that African A...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Black or African American
Share to Black People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycogen Storage Disease Type II

Share to Mutation

Share to Mutation, Missense

Source

Identifiers

PMID: 10189220
DOI: 10.1002/(sici)1098-1004(1999)13:1<83::aid-humu13>3.0.co;2-2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10189220-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.PMID 10189220Read ↗

Glycogenosis type II: a juvenile-specific mutation with an unusual splicing pattern and a shared mutation in African Americans.Semantic proximity Read ↗

Genetic analysis of 76 Spanish Pompe disease patients: Identification of 12 novel pathogenic GAA variants and functional characterization of splicing variants.Semantic proximity Read ↗

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).Semantic proximity Read ↗

Novel Mutations Found in Individuals with Adult-Onset Pompe Disease.Semantic proximity Read ↗

Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease.Semantic proximity Read ↗

Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.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 ↗

Molecular genetics of Pompe disease: a comprehensive overviewSemantic proximity Read ↗

Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.Semantic proximity Read ↗

Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations.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 ↗

The African Origin of the Common Mutation in African American Patients with Glycogen-Storage Disease Type IISemantic proximity Read ↗

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