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

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.

American journal of medical genetics - 6 Aug 1998

Hinson D D, Rogers Z R, Hoffmann G F, Schachtele M, Fingerhut R, Kohlschutter A, Kelley R I, Gibson K M

Abstract excerpt

We describe two patients with mevalonate kinase deficiency and prominent hematologic abnormalities and cholestatic liver disease. Patient R.B. was not anemic at birth, but developed petechiae and cutaneous extramedullary hematopoiesis, hepatosplenomegaly, leukocytosis, and recurrent febrile event...

Topics

Anemia
Cholestasis, Intrahepatic
Cholesterol
Hematologic Diseases
Hepatomegaly
Heterozygote
Humans
Hyperbilirubinemia
Infant, Newborn
Leukocytosis
Male
Metabolism, Inborn Errors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mevalonic Acid

Phenotype

Phosphotransferases (Alcohol Group Acceptor)

Splenomegaly

Thrombocytopenia

Source

Identifiers

PMID: 9714005

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9714005-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.PMID 9714005Read ↗

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.Semantic proximity Read ↗

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

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

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

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.Semantic proximity Read ↗

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

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

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

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

Mevalonate kinase deficiency: current perspectivesSemantic proximity Read ↗

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