Mario Mastrangelo

Pubblicazioni

Titolo Pubblicato in Anno
Photosensitivity as an early marker of epileptic and developmental encephalopathies EPILEPSIA 2018
PRICKLE1-related early onset epileptic encephalopathy AMERICAN JOURNAL OF MEDICAL GENETICS. PART A 2018
Progressive myoclonus epilepsy and ceroidolipofuscinosis 14. The multifaceted phenotypic spectrum of KCTD7-related disorders EUROPEAN JOURNAL OF MEDICAL GENETICS 2018
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency ORPHANET JOURNAL OF RARE DISEASES 2017
Lennox-Gastaut Syndrome: A State of the Art Review. NEUROPEDIATRICS 2017
Minor head trauma in the pediatric emergency department: decision making nodes CURRENT PEDIATRIC REVIEWS 2017
Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 2017
Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation MOLECULAR GENETICS AND METABOLISM 2017
Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO) DATA IN BRIEF 2017
Epilepsy in kcnh1-related syndromes EPILEPTIC DISORDERS 2016
Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type b NEUROLOGY 2016
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders MOLECULAR GENETICS AND METABOLISM REPORTS 2016
Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia JOURNAL OF INHERITED METABOLIC DISEASE 2016
Safety and efficacy of Rotigotine in 7 patients with monoaminergic neurotransmitter deficiency JOURNAL OF INHERITED METABOLIC DISEASE 2016
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? JIMD REPORTS 2015
The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study MOLECULAR GENETICS AND METABOLISM 2015
Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes. PEDIATRIC NEUROLOGY 2015
White matter abnormalities in early treated phenylketonuria: a retrospective longitudinal long term study JOURNAL OF INHERITED METABOLIC DISEASE 2015
The Spectrum of Early Movement Disorders in Congenital Defects of Biogenic Amine Metabolism JOURNAL OF PEDIATRIC NEUROLOGY 2015

ERC

  • LS4

Interessi di ricerca

Epilessie su base genetico-metabolica
Malattie neurogenetiche rare
Emergenze neurologiche Pediatriche

Keywords

epilepsy
clinical neurology
Children.

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