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

Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings.

European journal of pediatrics - 1 Apr 2007

Wurm Donald, Hänsgen Andrea, Kim Yoo-Jin, Lindinger Angelika, Baghai Ali, Gortner Ludwig

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Autopsy
Share to Congenital Disorders of Glycosylation
Share to Fatal Outcome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant

Share to Infant, Newborn

Share to Phosphotransferases (Phosphomutases)

Share to Siblings

Source

Identifiers

PMID: 16941129
DOI: 10.1007/s00431-006-0240-y

Genes

PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Early fatal course in siblings with CDG-Ia (caused by two novel mutations in the PMM2 gene): clinical, molecular and autopsy findings.PMID 16941129Read ↗

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.Semantic proximity Read ↗

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).Semantic proximity Read ↗

Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.Semantic proximity Read ↗

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.Semantic proximity Read ↗

EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation.Semantic proximity Read ↗

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.Semantic proximity Read ↗

Late-onset GSDII with novel GAA gene mutation.Semantic proximity Read ↗

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation.Semantic proximity Read ↗

Simultaneous MFN2 and GDAP1 mutations cause major mitochondrial defects in a patient with CMT.Semantic proximity Read ↗

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature.Semantic proximity Read ↗

Clinical phenotypes of MAGEL2 mutations and deletions.Semantic proximity Read ↗

The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhoodSemantic proximity Read ↗

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