Evidence map›Paper›PMID 36636589›Full record

ArticleJIMD reports2023

Infantile-onset Pompe disease with neutropenia: Treatment decisions in the face of a unique phenotype.

Mary Riedy, Jeff F Zhang, Taosheng Huang, Anil Kumar Swayampakula

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

Article in JIMD reports, 2023. 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
0.4field-weighted citation impact, top 41% 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, 3 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

4 authors at 3 institutions in 1 country.

Mary RiedyDepartment of Pharmacy Practice, School of Pharmacy and Pharmaceutical Sciences University at Buffalo Buffalo New York USA.ORCID https://orcid.org/0000-0002-6260-9087
Jeff F ZhangJacobs School of Medicine and Biomedical Sciences University at Buffalo Buffalo New York USA.
Taosheng HuangDivision of Genetics, Department of Pediatrics University at Buffalo Buffalo New York USA.
Anil Kumar SwayampakulaDivision of Critical Care Medicine, Department of Pediatrics, John R. Oishei Children's Hospital University at Buffalo Buffalo New York USA.
University at Buffalo, State University of New York · USJacobs (United States) · USWomen & Children's Hospital of Buffalo · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Infantile-onset Pompe disease manifests with early signs of cardiomyopathy during the first few days to weeks of life. We present the case of a newborn born via emergency cesarean section with atrial flutter and moderate biventricular hypertrophy who was diagnosed with Pompe disease on New York State newborn screen. Diagnosis was confirmed with repeat leukocyte acid alpha-glucosidase (GAA) enzyme activity,

Indexed as

atrial flutterenzyme replacement therapyGAA geneinfantile‐onset Pompe disease (IOPD)neutropeniaventricular hypertrophy

Identifiers

PMID36636589
PMCPMC9830011
OpenAlexW4297267241

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.