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

Different presentations of mevalonate kinase deficiency: a case series.

Clinical and experimental rheumatology - 1 Jan 2000

De Pieri Carlo, Taddio Andrea, Insalaco Antonella, Barbi Egidio, Lepore Loredana, Ventura Alessandro, Tommasini Alberto

Abstract excerpt

OBJECTIVES: We aimed to raise awareness among paediatricians and physicians about this often misunderstood condition. METHODS: We discussed the clinical profiles associated with late or wrong diagnosis of mevalonate kinase deficency (MKD) in a single centre case series. RESULTS: We analysed the most common challenges and pitfalls that a clinician might face during the diagnostic process. Five main clinical...

Read the complete abstract on PubMed

Topics

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

Share to Bacterial Infections
Share to Diagnosis, Differential

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnostic Errors

Share to Inflammatory Bowel Diseases

Share to Mevalonate Kinase Deficiency

Share to Recurrence

Share to Sepsis

Share to Vasculitis

Source

Identifiers

PMID: 25897835

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Different presentations of mevalonate kinase deficiency: a case series.PMID 25897835Read ↗

RAS-MAPK pathway disorders: important causes of congenital heart disease, feeding difficulties, developmental delay and short stature.Semantic proximity Read ↗

A restrospective survey of patients's journey before the diagnosis of mevalonate kinase deficiency.Semantic proximity Read ↗

Complex MEFV and MVK Variations in a Syrian Child: Implications for Clinical Phenotypes and Treatment Response-A Case Report.Semantic proximity Read ↗

Challenges in diagnosing Muckle-Wells syndrome: identifying two distinct phenotypes.Semantic proximity Read ↗

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations.Semantic proximity Read ↗

Recent advances in managing and understanding Klinefelter syndromeSemantic proximity Read ↗

Phenotype-genotype correlation and treatment outcomes in mevalonate kinase deficiency: A large Turkish cohort.Semantic proximity Read ↗

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report.Semantic proximity Read ↗

Respiratory insufficiency as a presenting symptom of congenital myasthenic syndromes.Semantic proximity Read ↗

Natural history and life-threatening complications in Myhre syndrome and review of the literature.Semantic proximity Read ↗

Early onset children's Gitelman syndrome with severe hypokalaemia: a case report.Semantic proximity Read ↗

Fifteen-minute consultation: Assessment, surveillance and management of hemihypertrophy.Semantic proximity Read ↗

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