Work

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

Year: 2026

Type: article

Abstract: Key Summary What is already known about this topic? What does this study add?

Source: Prenatal Diagnosis

DOI: 10.1002/pd.70087

Authors: Aysegül Klapperich, Vaclava Skopova, Mert Karakaya, Clara Velmans, Christian Netzer, Brigitte Strizek, Lenka Steiner Mrazova, Marie Zikanova

Institutions: Charles University, General University Hospital in Prague, University of Cologne, Düsseldorf University Hospital, University Hospital Cologne, Heinrich Heine University Düsseldorf, University Hospital Bonn

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,640

Funders: Univerzita Karlova v Praze, European Commission, Ministerstvo Zdravotnictví Ceské Republiky

Awards: G240128644, G4157039176

OpenAlex ID: W7126211339

FWCI: 4.363

Cites: 3

Cited by: 1

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