Evidence map›Paper›PMID 36155185›Full record

ReviewMolecular genetics and metabolism

Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies.

Corrado Angelini, Alberto Burlina, Nenad Blau, Carlos R Ferreira

Open access · greenAbstract readReview
In one paragraph

Review in Molecular genetics and metabolism. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.9field-weighted citation impact, top 14% 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

13 citing papers in PubMed, 15 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Review
  8. Article
  9. Review
  10. Review
  11. Article
  12. Case report: NovelFrontiers in neurology · 2023
    Article
  13. Response to the Letter to the Editor.JSLS : Journal of the Society of Laparoendoscopic Surgeons
    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

4 authors at 3 institutions in 3 countries.

Corrado AngeliniLaboratory for Neuromuscular Diseases, Campus Pietro d'Abano, University of Padova, Padova, Italy. Electronic address: corrado.angelini@unipd.it.
Alberto BurlinaDivision of Inherited Metabolic Diseases, Reference Center for Expanded Newborn Screening, University Hospital Padova, 35128, Padua, Italy. Electronic address: alberto.burlina@unipd.it.
Nenad BlauDivision of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.
Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: carlos.ferreira@nih.gov.
University of Padua · ITNational Human Genome Research Institute · USUniversity Children's Hospital Zurich · CH

Funding

Skeletal GenomicsZIAHG200407 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI FERREIRA, CARLOS · 2020 to 2024
$3.7M
Intramural NIH HHS ZIA HG200407
6 · The paper itself

Abstract

Metabolic myopathies are characterized by the deficiency or dysfunction of essential metabolites or fuels to generate energy for muscle contraction; they most commonly manifest with neuromuscular symptoms due to impaired muscle development or functioning. We have summarized associations of signs and symptoms in 358 inherited metabolic diseases presenting with myopathies. This represents the tenth 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

Metabolic DiseasesMetabolism, Inborn ErrorsMuscular DiseasesHumansExercise intoleranceHypotoniaRhabdomyolysisSkeletal muscleWeakness

Identifiers

PMID36155185
PMCPMC10507680
OpenAlexW4296229265

What OpenQuestion holds

Textmetadata
LicenceTDM
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.