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List of works by Mario Mastrangelo

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

scientific article

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

scientific article published on 13 September 2012

Actual insights into the clinical management of febrile seizures.

scientific article published on 30 January 2014

Acute diplopia in the pediatric Emergency Department. A cohort multicenter Italian study

scientific article published on 3 June 2017

Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1

scientific article published on 22 February 2011

Bilateral perysilvian polymicrogyria in Chiari I malformation.

scientific article published on 13 October 2006

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

scientific article published on 28 October 2017

Complex epileptic (Foix-Chavany-Marie like) syndrome in a child with neurofibromatosis type 1 (NF1) and bilateral (opercular and paracentral) polymicrogyria.

scientific article published on 6 January 2008

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.

scientific article published on 18 January 2017

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]

scientific article published on 14 March 2018

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

scientific article published on 10 May 2012

Early-onset hereditary neuropathy with liability to pressure palsy.

scientific article published on February 2007

Epilepsy in KCNH1-related syndromes

scientific article

Epilepsy in inherited neurotransmitter disorders: Spotlights onpathophysiology and clinical management

scientific article published on 23 October 2020

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype ⬇️

scientific article published on January 1, 2012

Genetic background of febrile seizures

scientific article published on January 2014

Inborn errors of creatine metabolism and epilepsy ⬇️

scientific article published on November 13, 2012

Lennox-Gastaut Syndrome: A State of the Art Review.

scientific article published on 27 March 2017

Minor Head Trauma in the Pediatric Emergency Department: Decision Making Nodes

scientific article

Mitochondrial neurogastrointestinal encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers

scientific article published on 22 May 2012

Neurocardiogenic syncope and epilepsy in pediatric age: the diagnostic value of electroencephalogram-electrocardiogram holter.

scientific article published in January 2011

Neuromotor and cognitive outcomes of early treatment in tyrosine hydroxylase deficiency type B

scientific article published on 30 December 2016

New trends in neuronal migration disorders

scientific article

Novel Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotypes.

scientific article published on 15 May 2015

PRICKLE1-related early onset epileptic encephalopathy

article

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

scientific article

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

scientific article published on 25 November 2017

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?

scientific article

Teaching Video NeuroImages: Clinical course of infantile ascending hereditary spastic paralysis

scientific article published on 01 February 2014

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

scientific article (publication date: December 2016)

The outcome of white matter abnormalities in early treated phenylketonuric patients: A retrospective longitudinal long-term study

scientific article published on 10 August 2015

Transdermal rotigotine in the treatment of aromatic L-amino acid decarboxylase deficiency

scientific article published on 06 February 2013

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