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

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.

Journal of inherited metabolic disease - 1 Jan 2005

Rolland M O, Cuisset L, Le Bozec J, Guffon N, Vianey-Saban C

Abstract excerpt

Prenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity and mutation analysis were done. An affected fetus was diagnosed.

Read the complete abstract on PubMed

Topics

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

Share to Chorionic Villi
Share to Consanguinity
Share to Creatinine

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

Share to Metabolism, Inborn Errors

Share to Mevalonic Acid

Share to Phosphotransferases (Alcohol Group Acceptor)

Share to Pregnancy Trimester, First

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 16435209
DOI: 10.1007/s10545-005-0147-1

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria.PMID 16435209Read ↗

[Mevalonate kinase deficiency in 2016].Semantic proximity Read ↗

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

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

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

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndromeSemantic proximity Read ↗

Evolutionary hypothesis of the Mevalonate Kinase Deficiency.Semantic proximity Read ↗

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

A 6-year-old girl diagnosed with mevalonate kinase deficiency who had hydrops fetalis and neonatal-onset cholestasis.Semantic proximity Read ↗

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

Molecular cloning of human mevalonate kinase and identification of a missense mutation in the genetic disease mevalonic aciduria.Semantic proximity Read ↗

Mevalonate kinase deficiency: Evidence for a phenotypic continuum.Semantic proximity Read ↗

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