Evidence map›Paper›PMID 31474985›Full record

ArticleFrontiers in immunology2019

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.

Marcia A Munoz, Julie Jurczyluk, Anna Simon, Pravin Hissaria, Rob J W Arts, David Coman, Christina Boros, Sam Mehr, Michael J Rogers

Open access · goldAbstract read
In one paragraph

Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed, 2 pooled it
1.5field-weighted citation impact, top 18% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 29 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Case Report: Clinical application of anFrontiers in pediatrics · 2025
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 7 institutions in 2 countries.

Marcia A MunozBone Biology, Garvan Institute of Medical Research, Sydney & St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia.
Julie JurczylukBone Biology, Garvan Institute of Medical Research, Sydney & St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia.
Anna SimonDepartment of Internal Medicine, Radboudumc Expertise Centre for Immunodeficiency and Autoinflammation, Radboud University Medical Centre, Nijmegen, Netherlands.
Pravin HissariaRoyal Adelaide Hospital, Adelaide, SA, Australia.
Rob J W ArtsDepartment of Internal Medicine, Radboudumc Expertise Centre for Immunodeficiency and Autoinflammation, Radboud University Medical Centre, Nijmegen, Netherlands.
David ComanQueensland Children's Hospital, Brisbane, QLD, Australia.
Christina BorosDepartment of Rheumatology, Women's and Children's Hospital, University of Adelaide Discipline of Paediatrics, Adelaide, SA, Australia.
Sam MehrDepartment of Allergy and Immunology, Royal Children's Hospital, Melbourne, VIC, Australia.
Michael J RogersBone Biology, Garvan Institute of Medical Research, Sydney & St Vincent's Clinical School, UNSW Sydney, Sydney, NSW, Australia.
Garvan Institute of Medical Research · AURadboud University Medical Center · NLGriffith University · AURoyal Adelaide Hospital · AURoyal Children's Hospital · AUSt Vincent's Clinic · AUUniversity of Adelaide · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the

Indexed as

MutationAdultBiomarkersCells, CulturedChildFemaleGenotypeHereditary Autoinflammatory DiseasesHumansLeukocytes, MononuclearMaleMevalonate Kinase DeficiencyPhosphorylationPhosphotransferases (Alcohol Group Acceptor)Protein Prenylationrap1 GTP-Binding ProteinsBiomarkersmevalonate kinasePhosphotransferases (Alcohol Group Acceptor)rap1 GTP-Binding ProteinsautoinflammationHIDSmevalonate kinaseprenylationRab GTPaseRap1

Identifiers

PMID31474985
PMCPMC6702261
OpenAlexW2964811272

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.