Diagnosis of glutaric aciduria type I based on neuroradiological findings: when neonatal screening fails

被引：0

作者：

Vincenza Gragnaniello ^{[1
]}

Andrea Puma ^{[2
]}

Daniela Gueraldi ^{[1
]}

Ignazio D’Errico ^{[1
]}

Chiara Cazzorla ^{[3
]}

Christian Loro ^{[1
]}

Elena Porcù ^{[1
]}

Leonardo Salviati ^{[1
]}

Alberto B. Burlina ^{[4
]}

机构：

[1] University Hospital of Padua,Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health

[2] University of Padua,Division of Inherited Metabolic Diseases, Department of Women’s and Children’s Health

[3] University of Padua,Department of Neurosciences

[4] University of Padua,Clinical Genetics Unit, Department of Women’s and Children’s Health

来源：

关键词：

Glutaric aciduria type I; Low-excretor; Newborn screening; Glutarylcarnitine; Urinary organic acids;

D O I：

10.1186/s13052-025-01975-z

中图分类号：

学科分类号：

摘要：

引用