Evidence map›Paper›PMID 34030713›Full record

ArticleOrphanet journal of rare diseases2021

The genetic basis of classical galactosaemia in Polish patients.

Aleksandra Jezela-Stanek, Anna Bauer, Katarzyna Wertheim-Tysarowska, Jerzy Bal, Agnieszka Magdalena Rygiel, Jolanta Sykut-Cegielska

Open access · goldAbstract readLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 46% 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

1 citing paper in PubMed, 2 citations in OpenAlex.

  1. 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

6 authors at 1 institution in 1 country.

Aleksandra Jezela-Stanek *Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland. jezela@gmail.com.ORCID http://orcid.org/0000-0001-9814-0324
Anna Bauer *Department of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.
Katarzyna Wertheim-TysarowskaDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Jerzy BalDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Agnieszka Magdalena RygielDepartment of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Jolanta Sykut-CegielskaDepartment of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, Warsaw, Poland.
Masih Daneshvari Hospital · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established by detecting elevated erythrocyte galactose-1-phosphate concentration, reduced erythrocyte galactose-1-phosphate uridylyltransferase (GALT) enzyme activity. Biallelic pathogenic variants in the GALT gene is confirmed by DNA analysis. Our paper presents molecular characteristics of 195 Polish patients diagnosed with galactosemia I, intending to expand the current knowledge of this rare disease's molecular etiology. To the best of our knowledge, the described cohort of galactosemia patients is the largest single-center cohort presented so far.

Indexed as

GalactosemiasHomozygoteHumansNucleotidyltransferasesPolandUTP-Hexose-1-Phosphate UridylyltransferaseNucleotidyltransferasesUTP-Hexose-1-Phosphate UridylyltransferaseClassical galactosemiaGALT geneVariants

Identifiers

PMID34030713
PMCPMC8142503
OpenAlexW3163981967

What OpenQuestion holds

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LicenceCC BY
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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.