Evidence map›Paper›PMID 37989003›Full record

ReviewMolecular genetics and metabolism2023

Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.

Eoghan Dunlea, Ellen Crushell, Melanie Cotter, Nenad Blau, Carlos R Ferreira

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Molecular genetics and metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
  4. 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

5 authors.

Eoghan DunleaDept of Haematology, Children's Health Ireland, Temple Street, Dublin, Ireland; School of Medicine, Trinity College, Dublin, Ireland. Electronic address: eoghan.dunlea@childrenshealthireland.ie.
Ellen CrushellNational Centre for Inherited Metabolic Disorders, Children's Health Ireland, Temple Street, Dublin, Ireland; School of Medicine, University College Dublin, Dublin, Ireland.
Melanie CotterDept of Haematology, Children's Health Ireland, Temple Street, Dublin, Ireland; School of Medicine, University College Dublin, Dublin, Ireland. Electronic address: melanie.cotter1@childrenshealthireland.ie.
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.

Funding

Intramural NIH HHS Z99 HD999999
6 · The paper itself

Abstract

Many classical inherited metabolic diseases (IMDs) are associated with significant hematological complications such as anemia or thrombosis. While these may not be the prominent presenting feature of these conditions, management of these issues is important for optimal outcomes in people with IMDs. Some disorders that are included in the nosology of inherited metabolic disorders, such as inherited disorders of red cell energy metabolism, have purely hematological features, and have typically been cared for by a hematologist. In the 16th issue of the Footprints series, we identified 265 IMDs associated with hematological abnormalities. We review the major hematological manifestations of IMDs, suggest further investigation of hematological findings, and discuss treatment options available for specific hematological complications of IMDs.

Indexed as

AnemiaMetabolic DiseasesHumansAnemiaBone marrow morphologyCoagulation abnormalitiesIEMbaseNeutropeniaPancytopeniaThrombocytopeniaWhite blood cell morphology

Identifiers

PMID37989003
PMCPMC11752444

What OpenQuestion holds

Textmetadata
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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.