Evidence map›Paper›PMID 36245745›Full record

ArticleFrontiers in pediatrics2022

Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.

Rodrigo Tzovenos Starosta, Ying-Chen Claire Hou, Katelyn Leestma, Prapti Singh, Luke Viehl, Linda Manwaring, Jorge Luis Granadillo, Molly C Schroeder, Jamie N Colombo, Halana Whitehead and 3 more

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

Article in Frontiers in pediatrics, 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
0.1field-weighted citation impact, top 53% 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, 2 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

13 authors at 1 institution in 1 country.

Rodrigo Tzovenos StarostaDivision of Clinical Genetics and Genomics, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Ying-Chen Claire HouDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, United States.
Katelyn LeestmaDivision of Clinical Genetics and Genomics, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Prapti SinghDivision of Clinical Genetics and Genomics, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Luke ViehlDivision of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Linda ManwaringDivision of Clinical Genetics and Genomics, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Jorge Luis GranadilloDivision of Clinical Genetics and Genomics, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Molly C SchroederDepartment of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO, United States.
Jamie N ColomboDivision of Pediatric Cardiology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Halana WhiteheadDivision of Newborn Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Patricia Irene DicksonDivision of Clinical Genetics and Genomics, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Monica L HulbertDivision of Pediatric Hematology and Oncology, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Hoanh Thi NguyenDivision of Clinical Genetics and Genomics, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, United States.
Washington University in St. Louis · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Infantile-onset Pompe disease (IOPD) is a rare, severe disorder of lysosomal storage of glycogen that leads to progressive cardiac and skeletal myopathy. IOPD is a fatal disease in childhood unless treated with enzyme replacement therapy (ERT) from an early age. Sickle cell anemia (SCA) is a relatively common hemoglobinopathy caused by a specific variant in the hemoglobin beta-chain. Here we report a case of a male newborn of African ancestry diagnosed and treated for IOPD and SCA. Molecular testing confirmed two

Indexed as

alpha-glucosidaseenzyme replacement therapyglycogen storage disorder type IIimmune tolerance inductionmethotrexatenewborn screeningsickle cell anemia

Identifiers

PMID36245745
PMCPMC9555291
OpenAlexW4297475621

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.