Evidence map›Paper›PMID 31005404›Full record

ReviewMolecular genetics and metabolism2019

Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases.

Carlos R Ferreira, David Cassiman, Nenad Blau

Abstract readReview
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 40 papers.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed
–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

40 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. Article
  5. Observational
  6. Review
  7. Gene-based therapies for steatotic liver disease.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
  8. Article
  9. Article
  10. Article
  11. Review
  12. Review
  13. Review
  14. Review
  15. [Advancements in the diagnosis and treatment of pediatric acute liver failure].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024
    Review
  16. Review
  17. Review
  18. Article
  19. Review
  20. mRNA vaccines in disease prevention and treatment.Signal transduction and targeted therapy · 2023
    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.
David CassimanDepartment of Gastroenterology-Hepatology and Metabolic Center, University of Leuven, Leuven, Belgium. Electronic address: david.cassiman@kuleuven.be.
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

Inherited metabolic diseases account for about one third of pediatric patients with hepatomegaly, acute liver failure, cirrhosis or cholestasis. Specifically for pediatric acute liver failure, they account for 10-15% of cases, with a mortality of 22-65%. The percentage of acute liver failure caused by an inherited metabolic disease in children <2-3 years of age is even higher, ranging from a third to half of all cases. Metabolic liver disease accounts for 8-13% of all pediatric liver transplantations. Despite this high burden of disease, underdiagnosis remains common. We reviewed and updated the list of known metabolic etiologies associated with various types of metabolic liver involvement, and found 142 relevant inborn errors of metabolism. This represents the second 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

Diagnosis, DifferentialHepatomegalyHumansLiver CirrhosisLiver DiseasesLiver Failure, AcuteLiver TransplantationMetabolism, Inborn ErrorsAcute liver failureCholestasisCirrhosisElevated liver enzymesFatty liverHepatic adenomasHepatocellular carcinomaHepatomegalyInborn errors of metabolismInherited metabolic diseasesMetabolic liver diseaseSteatosis

Identifiers

PMID31005404
PMCPMC10515611

What OpenQuestion holds

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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.