Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing

10 Jul 2025

Abstract excerpt

Lysosomal storage disorders (LSD) are a group of inherited metabolic diseases that contribute to nonimmune hydrops fetalis (NIHF). Our objective was to review the pooled exome sequencing (ES) diagnostic yield of LSD in NIHF cases. We expanded our previous meta-analysis and updated our search strategy of prenatal ES studies from 1/1/2000 to 8/1/2024. Cases with LSD gene variants were reviewed. Variants were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Blood groups and transfusion
Share to Erythrocyte Function and Pathophysiology
Share to Parvovirus B19 Infection Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 40640912
DOI: 10.1186/s13023-025-03851-9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencingPMID 40640912Read ↗

Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.Semantic proximity Read ↗

The many etiologies of nonimmune hydrops fetalis diagnosed by exome sequencingSemantic proximity Read ↗

RASopathies are the most common set of monogenic syndromes identified by exome sequencing for nonimmune hydrops fetalis: A systematic review and meta-analysis.Semantic proximity Read ↗

Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective AnalysisSemantic proximity Read ↗

Investigation of lysosomal storage diseases in nonimmune hydrops fetalisSemantic proximity Read ↗

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis.Semantic proximity Read ↗

Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.Semantic proximity Read ↗

Hereditary Anemias as a Monogenic Etiology for Nonimmune Hydrops Fetalis.Semantic proximity Read ↗

Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalisSemantic proximity Read ↗

A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.Semantic proximity Read ↗

Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.Semantic proximity Read ↗

PIEZO1 is the most common monogenic etiology of non‐immune hydrops fetalis detected by prenatal exome sequencingSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.