Evidence map›Paper›PMID 30041937›Full record

ReviewThe Journal of pediatrics2018

Diagnostic Delay in Erythropoietic Protoporphyria.

Sajel M Lala, Hetanshi Naik, Manisha Balwani

Abstract readCase ReportsReview
In one paragraph

Review in The Journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing 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

19 citing papers in PubMed.

  1. Article
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  4. Review
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  14. Review
  15. Review
  16. Frontiers in medicine · 2021
    Article
  17. Updates on the diagnosis and management of the most common hereditary porphyrias: AIP and EPP.Hematology. American Society of Hematology. Education Program · 2020
    Article
  18. Article
  19. 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

3 authors.

Sajel M LalaDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Hetanshi NaikDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
Manisha BalwaniDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address: manisha.balwani@mssm.edu.

Funding

Porphyrias Consortium: SupplementU54DK083909 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BALWANI, MANISHA, DESNICK, ROBERT J · 2009 to 2023
$18.5M
Clinical and Molecular Studies of the Erythropoietic Protoporphyria PhenotypeK23DK095946 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI BALWANI, MANISHA · 2013 to 2017
$906k
NIDDK NIH HHS K23 DK095946NIDDK NIH HHS U54 DK083909
6 · The paper itself

Abstract

Erythropoietic protoporphyria is a photodermatosis presenting in childhood with severe pain on sun exposure. The diagnosis is often delayed because of the lack of awareness among pediatricians. We describe the diagnostic odyssey of 2 children presenting with symptoms of erythropoietic protoporphyria and report results of a survey of 129 affected individuals.

Indexed as

Delayed DiagnosisChild, PreschoolDiagnosis, DifferentialFemaleHumansHypersensitivityMalePhotosensitivity DisordersPrognosisProtective ClothingProtoporphyria, ErythropoieticRecurrenceRisk AssessmentSeverity of Illness IndexSunlightphotodermatosesphototoxicityporphyria

Identifiers

PMID30041937
PMCPMC6203604

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.