Evidence map›Paper›PMID 42327382›Full record

ArticleMolecular genetics and metabolism reports2026

Newborn screening for Fabry disease in Japan: an additional 3-year report.

Takaaki Sawada, Jun Kido, Keishin Sugawara, Shinichiro Yoshida, Takahito Inoue, Shinichi Hirose, Kimitoshi Nakamura

Abstract read
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In one paragraph

Article in Molecular genetics and metabolism 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
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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

7 authors.

Takaaki SawadaCenter for Clinical Genetics, Kumamoto University Hospital, Kumamoto, Japan.
Jun KidoDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Keishin SugawaraDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Shinichiro YoshidaKM Biologics Co., Ltd., Kumamoto, Japan.
Takahito InoueCenter for Maternal, Fetal and Neonatal Medicine, Fukuoka University Hospital, Fukuoka, Japan.
Shinichi HiroseGeneral Medical Research Center, School of Medicine, Fukuoka University, Fukuoka, Japan.
Kimitoshi NakamuraDepartment of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Newborn screening (NBS) for Fabry disease (FD) is highly effective at detecting FD prior to symptom onset. This initiative is currently being implemented worldwide. We previously reported results for 599,711 newborns from the first large-scale NBS program for FD in Japan, from August 2006 to December 2018. In this study, we provide additional data from January 2019 to September 2022. A total of 782,591 newborns were screened, and 29 variants, including 18 pathogenic variants and 11 variants of uncertain significance (VUS), were detected in 77 newborns (57 males and 20 females). Thirty-five male and 14 female newborns with pathogenic variants in

Indexed as

Fabry diseaseGLAHypohidrosisNewborn screeningZebra bodiesα-Gal A

Identifiers

PMID42327382
PMCPMC13276512

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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.