Evidence map›Paper›PMID 41169893›Full record

ArticleFrontiers in pediatrics2025

Two case reports and a literature review of hyperphosphatasia with intellectual disability syndrome 2 caused by a

Xinyi Wang, Jingya Zhao, Xiaoke Zhao, Le Ding, Min Zhu, Yang Li

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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.

Xinyi Wang *Department of Rehabilitation, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Jingya Zhao *Department of Rehabilitation, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Xiaoke ZhaoDepartment of Rehabilitation, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Le DingDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Min ZhuDepartment of Rehabilitation, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.
Yang LiDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: This study investigates the clinical features and genetic mutations associated with hyperphosphatasia with impaired intellectual development syndrome-2 (HPIDS2). Methods: A retrospective analysis was performed on two HPIDS2 cases treated at the Department of Rehabilitation, Nanjing Children's Hospital, from 2019 to 2023. Clinical features and genetic characteristics were summarized through a literature review. Results: Genetic testing showed compound heterozygous variations in the Conclusion: Global developmental delay, with or without hyperphosphatemia, may indicate HPIDS2. The level of alkaline phosphatase elevation could reflect disease severity and prognosis. Our cases expand the known pathogenic variations in the

Indexed as

elevated alkaline phosphatasegene mutationglobal developmental delayhyperphosphatasia with mental retardation syndrome2PIGO gene

Identifiers

PMID41169893
PMCPMC12570174

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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.