Evidence map›Paper›PMID 42647246›Full record

ArticleInternational journal of neonatal screening2026

Homozygosity for a Clinically Significant

Daniel R Schecter, Colleen Donnelly, Amy White, Hillary Raynes, Gordon Heller, Deepa Rajan, Carlos A Saavedra-Matiz, Joseph Orsini, Jaap-Jan Boelens, Dietrich Matern and 1 more

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

Article in International journal of neonatal screening, 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

11 authors.

Daniel R SchecterDepartment of Medical Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-8662-912X
Colleen DonnellyDepartment of Medical Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-6911-9427
Amy WhiteDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine and Science, Rochester, MN 55905, USA.ORCID 0000-0001-8226-615X
Hillary RaynesDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-8522-5860
Gordon HellerDepartment of Radiology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0001-9792-5699
Deepa RajanDepartment of Pediatrics, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
Carlos A Saavedra-MatizNewborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12203, USA.
Joseph OrsiniNewborn Screening Program, Wadsworth Center, New York State Department of Health, Albany, NY 12203, USA.ORCID 0000-0002-7081-6027
Jaap-Jan BoelensTransplantation and Cellular Therapies, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.
Dietrich MaternDivision of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine and Science, Rochester, MN 55905, USA.ORCID 0000-0001-6298-4138
Jaya GaneshDepartment of Medical Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.ORCID 0000-0002-4527-1264

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Krabbe disease is an autosomal recessive leukodystrophy caused by a deficiency of the lysosomal enzyme galactosylceramidase (GALC), responsible for the degradation of galactolipids, resulting in toxic psychosine accumulation and progressive demyelination of the central and peripheral nervous systems. Newborn screening (NBS) has increased recognition of later-onset Krabbe disease, although interpretation of complex

Indexed as

galactosylceramidaseGALChematopoietic stem cell transplantKrabbe diseasenewborn screening

Identifiers

PMID42647246
PMCPMC13510908

What OpenQuestion holds

Textmetadata
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.