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 genotype of mevalonic aciduria with fatalities in premature siblings.

Archives of disease in childhood. Fetal and neonatal edition - 1 Jan 2004

Raupp P, Varady E, Duran M, Wanders R J A, Waterham H R, Houten S M

Abstract excerpt

Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2 months of life. DNA analysis showed a novel mutation in the gene encoding mevalonate kinase.

Read the complete abstract on PubMed

Topics

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

Share to DNA Mutational Analysis
Share to Fatal Outcome
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Premature, Diseases

Share to Infant, Very Low Birth Weight

Share to Metabolism, Inborn Errors

Share to Mevalonic Acid

Share to Phosphotransferases (Alcohol Group Acceptor)

Source

Open in PubMed Open full text

Identifiers

PMID: 14711867
PMCID: PMC1721642

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel genotype of mevalonic aciduria with fatalities in premature siblings.PMID 14711867Read ↗

Case Report: Early-onset mevalonic aciduria in neonates with inflammatory marker elevated.Semantic proximity Read ↗

Phenotypic diversity, disease progression, and pathogenicity of MVK missense variants in mevalonic aciduriaSemantic proximity Read ↗

Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.Semantic proximity Read ↗

Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency.Semantic proximity Read ↗

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.Semantic proximity Read ↗

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.Semantic proximity Read ↗

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.Semantic proximity Read ↗

Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.Semantic proximity Read ↗

A woman with recurrent "infections" since birth--a new mevalonate kinase mutation.Semantic proximity Read ↗

Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiencySemantic proximity Read ↗

Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: high frequency of 3 mutations in the mevalonate kinase gene.Semantic proximity Read ↗

Genetic and phenotypic characteristics of 114 patients with mevalonate kinase deficiencySemantic proximity Read ↗

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