Latest Publications
Ongoing research produces publications. We are happy to share our knowledge in peer-review consensus guidelines that help physicians and clinicians to find valid diagnoses and proper treatment strategies for their patients.
Gene therapy for aromatic L-amino acid decarboxylase deficiency: Requirements for safe application and knowledge-generating follow-up
The autosomal recessive defect of aromatic L-amino acid decarboxylase (AADC) leads to a severe neurological disorder with manifestation in infancy due to a pronounced, combined deficiency of dopamine, serotonin and catecholamines. The success of conventional [...]
Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders
Purpose: Inborn errors of neurotransmitters are rare monogenic diseases. In general, conventional neuroimaging is not useful for diagnosis. Nevertheless, advanced neuroimaging techniques could provide novel diagnosis and prognosis biomarkers. We aim to describe cerebral volumetric findings [...]
Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Objective Glycine encephalopathy, also known as nonketotic hyperglycinemia (NKH), is an inherited neurometabolic disorder with variable clinical course and severity, ranging from infantile epileptic encephalopathy to psychiatric disorders. A precise phenotypic characterization and an evaluation [...]
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity Background: Genetic defects of monoamine neurotransmitters are rare neurological diseases amenable to treatment with variable response. [...]
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience
Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience Objective: Aromatic L-amino acid decarboxylase (AADC) deficiency is [...]
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients Inherited monoamine neurotransmitter disorders (iMNDs) are rare disorders with clinical manifestations ranging [...]