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.
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 [...]
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry
Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry Inherited disorders of neurotransmitter [...]
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Inherited disorders of neurotransmitter metabolism are rare neurodevelopmental diseases presenting with movement disorders and global developmental delay. This study presents the results of the first standardized deep phenotyping approach and describes the clinical and biochemical [...]
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive [...]
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies Tetrahydrobiopterin (BH4) deficiencies comprise a group of six rare neurometabolic disorders characterized by insufficient synthesis [...]