Evidence map›Paper›PMID 35537774›Full record

ArticleBMJ case reports2022

Early renal failure in childhood in a male with Fabry disease.

Josephine Norre Hogh, Hatim Ebrahim, Shabbir Moochhala, Uma Ramaswami

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.1field-weighted citation impact, top 56% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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 2 institutions in 1 country.

Josephine Norre HoghUniversity College London Medical School, University College London, London, UK.
Hatim EbrahimLysomal Disorders Unit, Royal Free London NHS Foundation Trust, London, UK.
Shabbir MoochhalaUCL Department of Renal Medicine, Royal Free London NHS Foundation Trust, London, UK.
Uma RamaswamiLysomal Disorders Unit, Royal Free London NHS Foundation Trust, London, UK uma.ramaswami@nhs.net.ORCID http://orcid.org/0000-0002-4703-7447
Royal Free London NHS Foundation Trust · GBUniversity College London · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Fabry disease is an X-linked lysosomal storage disorder caused by reduced activity or absence of the alpha-galactosidase A enzyme resulting in systemic accumulation of glycosphingolipids. End-stage renal disease (ESRD) is a late-stage manifestation of Fabry disease, typically presenting in the fifth decade of life, but is very rare in childhood. Here we present a case of an 11-year-old boy with classical Fabry disease presenting with ESRD requiring haemodialysis and transplant. Diagnosis was confirmed by renal biopsy,

Indexed as

Fabry DiseaseKidney Failure, ChronicAllelesalpha-GalactosidaseChildFemaleHumansMaleMutationalpha-GalactosidaseChronic renal failureGeneticsRenal medicineRenal transplantation

Identifiers

PMID35537774
PMCPMC9092140
OpenAlexW4280587440

What OpenQuestion holds

Textmetadata
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.