Evidence map›Paper›PMID 35242570›Full record

ArticleMolecular genetics and metabolism reports2022

Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia - A novel fumarylacetoacetate hydrolase (

Jaka Sikonja, Jernej Brecelj, Mojca Zerjav Tansek, Barbka Repic Lampret, Ana Drole Torkar, Simona Klemencic, Neza Lipovec, Valentina Stefanova Kralj, Sara Bertok, Jernej Kovac and 6 more

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

Article in Molecular genetics and metabolism reports, 2022. 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
0.6field-weighted citation impact, top 36% 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, 4 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

16 authors at 3 institutions in 2 countries.

Jaka SikonjaFaculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Jernej BreceljFaculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Mojca Zerjav TansekFaculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Barbka Repic LampretClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Ana Drole TorkarFaculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Simona KlemencicDepartment of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Neza LipovecUnit for Clinical Dietetics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Valentina Stefanova KraljDepartment of Gastroenterology, Hepatology and Nutrition, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Sara BertokDepartment of Endocrinology, Diabetes, and Metabolic Diseases, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Jernej KovacClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Barbara Faganel KotnikDepartment of Haematology and Oncology, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Marketa TesarovaDepartment of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Ziga Iztok RemecClinical Institute for Special Laboratory Diagnostics, University Children's Hospital, UMC Ljubljana, Ljubljana, Slovenia.
Marusa DebeljakFaculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Tadej BattelinoFaculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Urh GroseljFaculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Ljubljana University Medical Centre · SIUniversity of Ljubljana · SIGeneral University Hospital in Prague · CZ

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment. We presented the follow up of the only two Slovenian patients diagnosed with HT1. Metabolic control was monitored by measuring tyrosine, phenylalanine and succinylacetone from dried blood spots (DBSs). Retrograde screening of HT1 was performed from DBSs taken at birth using tandem mass spectrometry. First patient was diagnosed at the age of 6 months in the asymptomatic phase due to an abnormal liver echogenicity, the other presented at 2.5 months with an acute liver failure and needed a liver transplantation. The first was a compound heterozygote for a novel

Indexed as

AFP, alpha-fetoproteinALP, alkaline phosphataseALT, alanine transaminaseAST, aspartate transaminaseDBS, dried blood spotDried blood spotFAH, fumarylacetoacetate hydrolaseFumarylacetoacetate hydrolaseGGT, gamma glutamyl transferaseHT1, tyrosinemia type 1INR, international normalized ratioIntronic variantMS/MS, tandem mass spectrometryNBS, newborn screeningNitisinoneNTBC, nitisinonePTT, partial thromboplastin timeRF, reference rangeSA, succinylacetoneSuccinylacetoneTyrosinemia

Identifiers

PMID35242570
PMCPMC8856938
OpenAlexW4200582984

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.