ArticlePrenatal diagnosis2026
Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.
Aysegül Klapperich, Vaclava Skopova, Mert Karakaya, Clara Velmans, Christian Netzer, Brigitte Strizek, Lenka Steiner Mrazova, Marie Zikanova
Abstract readCase Reports
In one paragraphArticle in Prenatal diagnosis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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8 authors.
Aysegül KlapperichMVZ Humangenetik Köln, Cologne, Germany.
Vaclava SkopovaResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
Mert KarakayaInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Clara VelmansInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Christian NetzerInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Lenka Steiner MrazovaResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
Marie ZikanovaResearch Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic.
Funding
Charles University in Prague UNCE 24/MED/022Ministry of Education, Youth and Sports of the Czech Republic CZ.02.01.01/00/23_020/0008540Ministry of Education, Youth and Sports of the Czech Republic LM2023067Ministry of Health of the Czech Republic NU23-01-00500
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Indexed as
aberrant splicingadenylosuccinate lyase deficiencyADSLfetal phenotypeprenatal diagnosissynonymous variant
Identifiers
PMID41617613
PMCPMC12978515
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