Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous <i>ADSL</i> Variant Inducing Aberrant Splicing

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Publication Details

Journal
Prenatal Diagnosis
Published
2026-01-30
DOI
https://doi.org/10.1002/pd.70087
Primary Topic
Biochemical and Molecular Research
Type
article
Field-Weighted Citation Impact
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article

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing

Mert Karakaya, Václava Škopová, Brigitte Strizek, Marie Zikánová et al.
Prenatal Diagnosis
Biochemical and Molecular Research
article

Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing

Mert Karakaya, Václava Škopová, Brigitte Strizek, Marie Zikánová, Clara Velmans, Aysegül Klapperich, Lenka Steiner Mrazova, Christian Netzer
article en

Abstract

No abstract available for this paper.
Prenatal DiagnosisVol. 46(3)
University of Cologne (DE), Charles University (CZ), University Hospital Bonn (DE), Düsseldorf University Hospital (DE), University Hospital Cologne (DE), General University Hospital in Prague (CZ), Heinrich Heine University Düsseldorf (DE)
Univerzita Karlova v Praze, European Commission, Ministerstvo Zdravotnictví Ceské Republiky
Openalex Percentile: Top 73%
Biochemical and Molecular Research
DOIOpen Access PDFOpenAlex
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