Evidence map›Paper›PMID 40177161›Full record

ArticleClinical case reports2025

An Unusual Presentation of Tyrosinemia Type 1 in a Pediatric Patient: Case Report and Comprehensive Review.

Mahsa Rouhafshari, Mohammad Hadi Imanieh, Mahdi Khazaei, Zahra Radaei, Hamide Barzegar

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In one paragraph

Article in Clinical case reports, 2025. 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
–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

0 citing papers in PubMed.

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

5 authors.

Mahsa RouhafshariDepartment of Pediatric Gastroenterology Shiraz University of Medical Sciences Shiraz Iran.ORCID https://orcid.org/0009-0002-7651-5265
Mohammad Hadi ImaniehDepartment of Pediatric Gastroenterology, Gastroenterohepatology Research Center of Nemazee Hospital Shiraz University of Medical Sciences Shiraz Iran.ORCID https://orcid.org/0000-0003-4610-0413
Mahdi KhazaeiDepartment of Internal Medicine Shiraz University of Medical Sciences Shiraz Iran.ORCID https://orcid.org/0009-0003-7773-2023
Zahra RadaeiDepartment of Pediatric Gastroenterology Shiraz University of Medical Sciences Shiraz Iran.ORCID https://orcid.org/0009-0004-8018-0028
Hamide BarzegarNeonatal Research Center Shiraz University of Medical Sciences Shiraz Iran.ORCID https://orcid.org/0000-0003-1114-5937

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tyrosinemia type 1 often manifests with liver, renal, or peripheral neuropathy disorders. Before therapies like nitisinone, management was limited to dietary modifications and liver transplantation. We present a 19-month-old girl who developed respiratory distress requiring intubation, with abnormal laboratory findings, including liver function tests. Further work-up, including succinylacetone testing, confirmed tyrosinemia. She responded remarkably to nitisinone treatment.

Indexed as

diaphragmatic paralysisinborn errorsmetabolismtyrosinemia

Identifiers

PMID40177161
PMCPMC11961375

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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.