A. Celato

Quality of Life (QoL) assessment in a cohort of patients with Phenylketonuria

L. Giordano, F. Salvatore, A. Burlina, 2014, BMC Public Health.

The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review

R. Lachmann, R. Manara, A. Burlina, 2019, Journal of inherited metabolic disease.

Clinical, biochemical and molecular characterization of prosaposin deficiency

M. Tartaglia, M. Motta, V. Nigro, 2016, Clinical genetics.

Current insights into familial spastic paraparesis: new advances in an old disease.

F. Pierelli, G. Grieco, F. Santorelli, 2003, Functional neurology.

A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies.

M. Mastrangelo, V. Leuzzi, A. Celato, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Diagnostic work-up and therapeutic options in management of pediatric status epilepticus

M. Mastrangelo, A. Celato, 2012, World Journal of Pediatrics.

A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment

V. Leuzzi, C. Carducci, C. Carducci, 2013, Brain and Development.

The Utility of CSF for the Diagnosis of Primary and Secondary Monoamine Neurotransmitter Deficiencies

A. Burlina, G. Polo, A. Burlina, 2017, EJIFCC.

The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin

L. Giordano, J. Zschocke, A. Burlina, 2016, European Journal of Pediatrics.

A new form of cerebral folate deficiency with severe self‐injurious behaviour

M. Mastrangelo, C. Carducci, A. Celato, 2012, Acta paediatrica.