| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4168909 | The Journal of Pediatrics | 2007 | 7 Pages |
Abstract
ADSL deficiency may present with prenatal growth restriction, fetal and neonatal hypokinesia, and rapidly fatal neonatal encephalopathy. This clinical presentation is associated with genotypes resulting in very low residual enzyme activity.
Keywords
Related Topics
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Perinatology, Pediatrics and Child Health
Authors
Katharina MD, Marie MSc, Georg F. MD, Benno MD, Thomas MD, Eva MD, Gisela MD, Jakub Krijt, Lenka PhD, TomáÅ¡ MD, Jiri MD, PhD, Stanislav PhD, Rainer MD,