World Society of Child Science

Volume 6, Number 1, Year 2016

Special Issue: Childhood Neurometabolic Disorders

Guest Editor: Daniela Concolino

Guest Editorial
Daniela Concolino
Childhood Neurometabolic Disorders

• Abstract
• PDF 47 KB

Review Articles
Ferdinando Ceravolo, Simona Sestito, Francesca Falvo, Vincenzo Salpietro, Agata Polizzi, Martino Ruggieri, Mercuri Francesco Bruno, and Daniela Concolino
Neurological Involvement in Inherited Metabolic Diseases: An Overview

• Abstract
• PDF 120 KB

Daniela Procopio, Italia Mascaro, Stefania Ferraro, Ferdinando Ceravolo, Maria Teresa Moricca, Vincenzo Salpietro, Agata Polizzi, Martino Ruggieri, Giuseppe Bonapace, and Daniela Concolino
Hyperphenylalaninemia: From Diagnosis to Therapy

• Abstract
• PDF 267 KB

Italia Mascaro, Ferdinando Ceravolo, Stefania Ferraro, Daniela Procopio, Francesca Falvo, Michele Grisolia, Giuseppina Leone, Vincenzo Salpietro, Agata Polizzi, Martino Ruggieri, and Daniela Concolino
Neurological Involvement in Tetrahydrobiopterin Deficiency

• Abstract
• PDF 176 KB

Ferdinando Ceravolo, Michele Grisolia, Angela Nicolettti, Simona Sestito, Vincenzo Salpietro, Agata Polizzi, Martino Ruggieri, Giuseppe Bonapace, Elisa Pascale, and Daniela Concolino
Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency

• Abstract
• PDF 128 KB

Simona Sestito, Ferdinando Ceravolo, Francesca Falvo, Angela Nicoletti, Ettore Stefanelli, Rosalbina Apa, Vincenzo Salpietro, Agata Polizzi, Martino Ruggieri, and Daniela Concolino
Pathobiological Insights into the Newly Targeted Therapies of Lysosomal Storage Disorders

• Abstract
• PDF 200 KB

Simona Sestito, Francesca Falvo, Michele Grisolia, Angela Nicoletti, Elisa Pascale, Maria Teresa Moricca, Sara Esposito, Vincenzo Salpietro, Agata Polizzi, Martino Ruggieri, and Daniela Concolino
Neuronopathic Gaucher Disease

• Abstract
• PDF 178 KB

Francesca Falvo, Simona Sestito, Angela Nicoletti, Michele Grisolia, Italia Mascaro, Elisa Pascale, Vincenzo Salpietro, Agata Polizzi, Martino Ruggieri, and Daniela Concolino
The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review

• Abstract
• PDF 282 KB

Angela Nicoletti, Simona Sestito, Francesca Falvo, Italia Mascaro, Maria Teresa Moricca, Vincenzo Salpietro, Agata Polizzi, Martino Ruggieri, Mercuri Francesco Bruno, and Daniela Concolino
Neurological Findings in Anderson-Fabry Disease

• Abstract
• PDF 251 KB

Michele Grisolia, Simona Sestito, Ferdinando Ceravolo, Federica Invernizzi, Vincenzo Salpietro, Agata Polizzi, Martino Ruggieri, Barbara Garavaglia, and Daniela Concolino
The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview

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• PDF 228 KB

Agata Polizzi, Pietro Carbone, and Domenica Taruscio
Expanded Newborn Screening: A Chess Board Motif in Public Health

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• PDF 85 KB