Article
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.
The Journal of pediatrics - 1 Jan 2007
Mouchegh Katharina, Zikánová Marie, Hoffmann Georg F, Kretzschmar Benno, Kühn Thomas, Mildenberger Eva, Stoltenburg-Didinger Gisela, Krijt Jakub, Dvoráková Lenka, Honzík Tomás, Zeman Jiri, Kmoch Stanislav, Rossi Rainer
Abstract excerpt
OBJECTIVE: To characterize a new lethal fetal and early postnatal variant of adenylosuccinate lyase (ADSL) deficiency. STUDY DESIGN: This was a retrospective analysis of 6 patients with very early presentation of ADSL deficiency. RESULTS: Most of the 6 patients had impaired intrauterine growth, microcephaly, fetal hypokinesia, and a lack of fetal heart rate variability. Postnatally, they shared severe muscular...
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