Evidence map›Paper›PMID 30928149›Full record

ReviewMolecular genetics and metabolism2019

Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders.

Carlos R Ferreira, Georg F Hoffmann, Nenad Blau

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

22 citing papers in PubMed, 1 synthesis or guideline pooled it.

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  17. Inherited Metabolic Disorders Presenting with Ataxia.International journal of molecular sciences · 2020
    Review
  18. Movement Disorders in Genetic Pediatric Ataxias.Movement disorders clinical practice · 2020
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  20. 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

3 authors.

Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: ferreiracr@mail.nih.gov.
Georg F HoffmannDietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany.
Nenad BlauDietmar-Hopp Metabolic Center, University Children's Hospital, Heidelberg, Germany; Division of Metabolism, Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@med.uni-heidelberg.de.

Funding

Intramural NIH HHS Z99 HG999999
6 · The paper itself

Abstract

About a third of patients with inherited metabolic diseases with neurologic involvement suffer from a movement disorder, in the form of ataxia, hyperkinetic movements, or hypokinetic-rigid syndrome. We reviewed and updated the list of known metabolic etiologies associated with various types of movement disorders, and found approximately 200 relevant inborn errors of metabolism. This represents the first of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.

Indexed as

AtaxiaDiagnosis, DifferentialDystoniaHumansMetabolism, Inborn ErrorsMovement DisordersParkinsonian DisordersAtaxiaChoreoathetosisDystoniaHypokinetic-rigid syndromeInborn errors of metabolismInherited metabolic diseasesMovement disordersMyoclonusParkinsonismTremor

Identifiers

PMID30928149
PMCPMC10515610

What OpenQuestion holds

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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.