- A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patientsGaetano Terrone
Department of Pediatrics, Federico II University, via Pansini N 5, Naples, Italy
Eur J Med Genet 55:466-71. 2012..This malformation should be considered in patients with the 17q21.31 microdeletion syndrome, presenting suggestive symptoms (headache, neck pain, cerebellar signs or muscle weakness)...
- The Pediatric Symptom Checklist as screening tool for neurological and psychosocial problems in a paediatric cohort of patients with coeliac diseaseGaetano Terrone
Department of Pediatrics, University of Naples Federico II, Naples, Italy
Acta Paediatr 102:e325-8. 2013..To screen for neurological and behavioural disorders in a paediatric cohort of patients with coeliac disease (CD) in order to detect possible differences related to compliance with gluten-free diet (GFD)...
- A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndromeGaetano Terrone
Department of Translational Medicine Section of Pediatrics, Federico II University, Naples, Italy
Am J Med Genet A 164:190-3. 2014..This report shows that 14q11.2 microdeletions can mimic WHS and suggests that gene(s) in the deleted interval that may be responsible for a phenocopy of WHS...
- Child Neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorderGaetano Terrone
From the Departments of Pediatrics G T, N B P, G P, A R, G A and Molecular Medicine and Medical Biotechnologies M R, G F, University of Naples Federico II CEINGE Biotecnologie Avanzate s c ar l M R, C C, E S, F S, G F and IRCCS Fondazione SDN F S, Naples, Italy
Neurology 82:e1-4. 2014..We discuss the diagnosis of MTPD and review the prognosis and treatments. ..
- Safety for patients with celiac disease of baked goods made of wheat flour hydrolyzed during food processingLuigi Greco
Department of Pediatrics and European Laboratory for the Study of Food Induced Diseases, University of Naples, Federico II, Naples, Italy
Clin Gastroenterol Hepatol 9:24-9. 2011..We evaluated the safety of daily administration of baked goods made from this hydrolyzed form of wheat flour to patients with CD...
- Good cognitive performances in a child with Prader-Willi syndromeRosa Nugnes
Department of Translational Medical Sciences, Federico II University of Naples, Italy, Via Pansini, 5 80131 Naples, Italy
Ital J Pediatr 39:74. 2013..In conclusion, in presence of consisting clinical features of PWS and high diagnostic suspicion, the diagnosis of PWS should be considered even in presence of a borderline IQ and in absence of psychopathological abnormalities. ..
- Low-dose amitriptyline-induced acute dystonia in a patient with metachromatic leukodystrophyGerarda Cappuccio
Department of Paediatrics, University of Naples Federico II, Via S Pansini, 5, 80131, Naples, Italy
JIMD Rep 9:113-6. 2013..This experience raises a potential concern about the appropriate dose of amitriptyline in patients with MLD...