Evidence map›Paper›PMID 29364180›Full record

ReviewInternational journal of molecular sciences2018

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

Catia Cavicchi, Chiara Chilleri, Antonella Fioravanti, Lorenzo Ferri, Francesco Ripandelli, Cinzia Costa, Paolo Calabresi, Paolo Prontera, Francesca Pochiero, Elisabetta Pasquini and 4 more

Open access · goldAbstract readCase ReportsReview
In one paragraph

Review in International journal of molecular sciences, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
1.1field-weighted citation impact, top 26% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Review
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

14 authors at 3 institutions in 2 countries.

Catia CavicchiMolecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. catia.cavicchi@meyer.it.
Chiara ChilleriMolecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. chiara.chilleri@meyer.it.
Antonella FioravantiStructural Biology Researcher Center, VIB, Vrije Universiteit Brussel, 1050 Brussels, Belgium. Antonella.Fioravanti@vub.be.
Lorenzo FerriMolecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. lorenzo.ferri@meyer.it.
Francesco RipandelliNeurology Unit, Santa Maria della Misericordia Hospital, 06123 Perugia, Italy. fra.ripandelli@gmail.com.
Cinzia CostaNeurology Unit, Santa Maria della Misericordia Hospital, 06123 Perugia, Italy. cinzia.costa@unipg.it.
Paolo CalabresiNeurology Unit, Santa Maria della Misericordia Hospital, 06123 Perugia, Italy. paolo.calabresi@unipg.it.
Paolo PronteraMedical Genetics Unit, Santa Maria della Misericordia Hospital, 06123 Perugia, Italy. pprontera@hotmail.com.
Francesca PochieroMetabolic and Muscular Unit, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. francesca.pochiero@meyer.it.
Elisabetta PasquiniMetabolic and Muscular Unit, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. elisabetta.pasquini@meyer.it.
Silvia FunghiniNewborn Screening, Biochemistry and Pharmacology Laboratory, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. silvia.funghini@meyer.it.
Giancarlo la MarcaNewborn Screening, Biochemistry and Pharmacology Laboratory, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. g.lamarca@meyer.it.
Maria Alice DonatiMetabolic and Muscular Unit, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. m.donati@meyer.it.
Amelia MorroneMolecular and Cell Biology Laboratory of Neurometabolic Diseases, Neuroscience Department, Meyer Children's Hospital, 50139 Florence, Italy. amelia.morrone@meyer.it.
Meyer Children's Hospital · ITOspedale Santa Maria · ITVrije Universiteit Brussel · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Age of OnsetAmino-Acid N-AcetyltransferaseBiomarkersBrainElectroencephalographyFemaleGlutamatesHumansMiddle AgedSymptom AssessmentTreatment OutcomeUrea Cycle Disorders, InbornAmino-Acid N-AcetyltransferaseBiomarkersGlutamatesN-carbamylglutamateheadacheshyperammonemic encephalopathylate-onset UCDsN-acetylglutamate synthase deficiency (NAGSD)NAGS gene mutationsN-carbamylglutamate (NCG)urea cycle disorders (UCDs)

Identifiers

PMID29364180
PMCPMC5855567
OpenAlexW2785618471

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.