Evidence map›Paper›PMID 42548915›Full record

ArticleClinical case reports2026

A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report.

Muhammad Wajid Siddique, Muhammad Hanzla Shahzad, Mifrah Rahat Khan, Fnu Mahparah, Kanchan Kumari, Muhammad Husnain Ahmad

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Article in Clinical case reports, 2026. 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

6 authors.

Muhammad Wajid SiddiqueAmeer-ud-din Medical College Lahore Pakistan.ORCID https://orcid.org/0009-0005-8656-5049
Muhammad Hanzla ShahzadAmeer-ud-din Medical College Lahore Pakistan.ORCID https://orcid.org/0009-0009-0374-4340
Mifrah Rahat KhanDivision of Cardiology Duke University Hospital Durham North Carolina USA.ORCID https://orcid.org/0000-0002-3139-8299
Fnu MahparahDepartment of Medicine Faisalabad Medical University Faisalabad Punjab Pakistan.
Kanchan KumariDepartment of Medicine Liaquat National Medical College Karachi Sindh Pakistan.ORCID https://orcid.org/0009-0005-2157-5684
Muhammad Husnain AhmadSt. Tentishev Asian Medical Institute kant Kyrgyzstan.ORCID https://orcid.org/0009-0006-5248-0749

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 7.5-year-old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment. Due to the atypical findings, genetic testing was performed and confirmed the diagnosis of Hereditary tyrosinemia Type 1. Her survival without liver failure remains atypical for Pakistan.

Indexed as

case reportgenetic testinghypophosphatemic ricketsnitisinonePakistantyrosinemia type 1

Identifiers

PMID42548915
PMCPMC13429928

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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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.