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

Prenatal Diagnosis 2026 Open access

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Authors: Aysegül Klapperich, Václava Škopová, Mert Karakaya, Clara Velmans, Christian Netzer, Brigitte Strizek, Lenka Steiner Mrazova, Marie Zikánová
DOI: 10.1002/pd.70087
Cited by: 1
References: 3

Abstract

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

Fields of Study & Subjects

Biochemical and Molecular Research Genomics and Rare Diseases Carbohydrate Chemistry and Synthesis

Publication details

Journal / source
Prenatal Diagnosis
Publisher
Wiley
Volume
46
Issue
3
Pages
454–457
Publication date
30 January 2026
Language
EN