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Titolo:
Extraneurologic symptoms as presenting signs of Sanfilippo disease
Autore:
Barone, R; Fiumara, A; Villani, GRD; Di Natale, P; Pavone, L;
Indirizzi:
Univ Catania, Dept Pediat, Div Pediat Neurol, I-95125 Catania, Italy Univ Catania Catania Italy I-95125 Pediat Neurol, I-95125 Catania, Italy Univ Naples Federico II, Dept Biochem, Naples, Italy Univ Naples Federico II Naples Italy co II, Dept Biochem, Naples, Italy
Titolo Testata:
PEDIATRIC NEUROLOGY
fascicolo: 3, volume: 25, anno: 2001,
pagine: 254 - 257
SICI:
0887-8994(200109)25:3<254:ESAPSO>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
SYNDROME TYPE-B; MUCOPOLYSACCHARIDOSIS TYPE-IIIB; N-ACETYLGLUCOSAMINIDASE GENE; MUTATIONS; IDENTIFICATION; MILD;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
11
Recensione:
Indirizzi per estratti:
Indirizzo: Barone, R Univ Catania, Dept Pediat, Div Pediat Neurol, Vle A Doria 6, I-95125 Catania, Italy Univ Catania Vle A Doria 6 Catania Italy I-95125 Catania, Italy
Citazione:
R. Barone et al., "Extraneurologic symptoms as presenting signs of Sanfilippo disease", PED NEUROL, 25(3), 2001, pp. 254-257

Abstract

Sanfilippo disease, or mucopolysaccharidosis type III, results from the deficiency of lysosomal hydrolases, which impairs heparan sulfate metabolism. Clinically, the disease is characterized by a mild somatic phenotype combined with early severe neurodegenerative illness with prominent behavioral disturbance. We report clinical and molecular findings of a child with Sanfilippo disease type B (alpha -N-acetylglucosaminidase deficiency) who presented at age 18 months with marked systemic involvement and normal initial psychomotor development. These findings suggest that atypical mucopolysaccharidosis type III patients may present with early somatic changes preceding the onset of overt neurologic symptoms and ensuring an early diagnosis and possible therapeutic intervention. (C) 2001 by Elsevier Science Inc. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 15:13:02