Evidence map›Paper›PMID 34304991›Full record

ReviewMolecular genetics and metabolism

Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses.

Carlos R Ferreira, Diego Martinelli, Nenad Blau

Open access · greenAbstract readReview
PubMed Full text at PMC Publisher
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
1.6field-weighted citation impact, top 18% 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.

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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 at 3 institutions in 3 countries.

Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: ferreiracr@mail.nih.gov.
Diego MartinelliDivision of Metabolism, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Nenad BlauDivision of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch.
Bambino Gesù Children's Hospital · ITNational Human Genome Research Institute · USUniversity Children's Hospital Zurich · CH

Funding

Intramural NIH HHS Z99 HG999999
6 · The paper itself

Abstract

Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The principal manifestations can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, abnormal pigmentation, photosensitivity, skin laxity, hair shaft involvement, and nail abnormalities. We have summarized associations of these cutaneous signs and symptoms in 252 inherited metabolic diseases. This represents the sixth 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, DifferentialHumansIchthyosisMetabolic DiseasesMetabolism, Inborn ErrorsOvertreatmentSkinSkin DiseasesAbnormal pigmentationCutis laxaHair shaft involvementIchthyosisPhotosensitivitySkin disordersSkin eruptionsVascular lesions

Identifiers

PMID34304991
PMCPMC8578301
OpenAlexW3185643525

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.