Evidence map›Paper›PMID 36101825›Full record

ArticleJIMD reports2022

Intermittent neurologic decompensation: An underrecognized presentation of tyrosine hydroxylase deficiency.

Marjolaine Champagne, Gabriella A Horvath, Sébastien Perreault, Julie Gauthier, Keith Hyland, Jean-François Soucy, Grant A Mitchell

Open access · goldAbstract readCase Reports
In one paragraph

Article in JIMD reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed, 1 pooled it
0.4field-weighted citation impact, top 40% 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

5 citing papers in PubMed, 1 synthesis or guideline pooled it, 5 citations in OpenAlex.

  1. Guideline
  2. Article
  3. Clinical and genetic spectrum of L-dopa responsive dystonia: insights from seven Egyptian cases.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  4. Article
  5. Article
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

7 authors at 4 institutions in 2 countries.

Marjolaine ChampagneDivision of Medical Genetics, Department of Pediatrics, Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte-Justine Université de Montréal Montréal Québec Canada.
Gabriella A HorvathDivision of Biochemical Diseases, Department of Pediatrics BC Children's Hospital Vancouver British Columbia Canada.
Sébastien PerreaultDivision of Child Neurology, Department of Pediatrics Centre Hospitalier Universitaire Sainte-Justine Montréal Québec Canada.
Julie GauthierDivision of Medical Genetics, Department of Pediatrics, Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte-Justine Université de Montréal Montréal Québec Canada.
Keith HylandMNG Laboratories (Medical Neurogenetics, LLC.), MNG, a Wholly Owned Subsidiary of Laboratory Corporation of America Holdings San Diego California USA.
Jean-François SoucyDivision of Medical Genetics, Department of Pediatrics, Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte-Justine Université de Montréal Montréal Québec Canada.
Grant A MitchellDivision of Medical Genetics, Department of Pediatrics, Molecular Diagnostic Laboratory, Centre Hospitalier Universitaire Sainte-Justine Université de Montréal Montréal Québec Canada.
Université de Montréal · CACentre Hospitalier Universitaire Sainte-Justine · CABritish Columbia Children's Hospital · CALabCorp (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tyrosine hydroxylase deficiency (THD) is a treatable inborn error of dopamine biosynthesis caused by mutations in

Indexed as

neurological decompensationTHtyrosine hydroxylase deficiency

Identifiers

PMID36101825
PMCPMC9458604
OpenAlexW4281752599

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.