ArticleMolecular genetics and metabolism reports2024
A
Article in Molecular genetics and metabolism reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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.
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.
Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
- Mucopolysaccharidosis-Plus Syndrome: Is This a Type of Mucopolysaccharidosis or a Separate Kind of Metabolic Disease?International journal of molecular sciences · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Non-immune hydrops fetalis (NIHF) is a common and severe manifestation of many genetic disorders. The ultrasound is an ideal method for diagnosing hydrops fetalis during pregnancy. Since most NIHFs do not have an identifiable cause, determining the underlying etiology remains a challenge for prenatal counseling. Due to advancements in exome sequencing, the diagnostic rates of NIHF have recently increased. As reported here, DNA was extracted from the amniotic fluid of a pregnant woman who was prenatally diagnosed with a NIHF type of unclear origin. Amniocentesis sampling demonstrated a normal female karyotype and copy number variation(CNVs) without alterations. Tri-whole exome sequencing (WES) was conducted to identify possible causative variants. In the fetus, a
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Registered trials
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.