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

Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

Journal of child neurology - 1 Feb 2012

Li Sing-Chung, Hwu Wuh-Liang, Lin Ju-Li, Bali Deeksha S, Yang Chen, Chu Shih-Ming, Chien Yin-Hsiu, Chou Hung-Chieh, Chen Chien-Yi, Hsieh Wu-Shiun, Tsao Po-Nien, Chen Yuan-Tsong, Lee Ni-Chung

Abstract excerpt

Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme. Glycogen storage disease type IV has a broad clinical spectrum ranging from a perinatal lethal form to a nonprogressive later-onset disease in adults. Here, we report 2 unrelated infants who were born small for their gestational age and who had...

Read the complete abstract on PubMed

Topics

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

Share to 1,4-alpha-Glucan Branching Enzyme
Share to Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatal Outcome

Share to Frameshift Mutation

Share to Infant

Share to Infant, Newborn

Share to Sequence Deletion

Source

Identifiers

PMID: 21917543
DOI: 10.1177/0883073811415107

Genes

GBE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.PMID 21917543Read ↗

Neonatal presentation of lethal neuromuscular glycogen storage disease type IV.Semantic proximity Read ↗

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).Semantic proximity Read ↗

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.Semantic proximity Read ↗

Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.Semantic proximity Read ↗

Null mutations and lethal congenital form of glycogen storage disease type IV.Semantic proximity Read ↗

Congenital type IV glycogenosis: the spectrum of pleomorphic polyglucosan bodies in muscle, nerve, and spinal cord with two novel mutations in the GBE1 gene.Semantic proximity Read ↗

A neonatal form of glycogen storage disease type IV.Semantic proximity Read ↗

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.Semantic proximity Read ↗

Neuromuscular forms of glycogen branching enzyme deficiency.Semantic proximity Read ↗

A novel GBE1 gene variant in a child with glycogen storage disease type IV.Semantic proximity Read ↗

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.Semantic proximity Read ↗

[Onset of Glycogen Storage Disease Type Ⅻ in Two Brothers in the Neonatal Period].Semantic proximity Read ↗

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