Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
OLIVOPONTOCEREBELLAR ATROPHY LEADING TO RECOGNITION OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I
Autore:
PAVONE L; FIUMARA A; BARONE R; RIZZO R; BUTTITTA P; DOBYNS WB; JAEKEN J;
Indirizzi:
UNIV CATANIA,DEPT PEDIAT,VIALE A DORINA 6 I-95100 CATANIA ITALY G CRISTINA HOSP,DEPT NEONATOL PALERMO ITALY UNIV MINNESOTA,DEPT NEUROL,DIV PEDIAT NEUROL MINNEAPOLIS MN 55455 CATHOLIC UNIV LEUVEN,DEPT PEDIAT,CTR METAB DIS B-3000 LOUVAIN BELGIUM
Titolo Testata:
Journal of neurology
fascicolo: 10, volume: 243, anno: 1996,
pagine: 700 - 705
SICI:
0340-5354(1996)243:10<700:OALTRO>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
ABNORMALITIES; HYPOPLASIA; DISORDERS; CHILDREN; ONSET; GOLGI;
Keywords:
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; OLIVOPONTOCEREBELLAR ATROPHY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
24
Recensione:
Indirizzi per estratti:
Citazione:
L. Pavone et al., "OLIVOPONTOCEREBELLAR ATROPHY LEADING TO RECOGNITION OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME TYPE-I", Journal of neurology, 243(10), 1996, pp. 700-705

Abstract

The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age because of marked olivopontocerebellar atrophy seen on MRI. Previous CT findings were interpreted as showing Dandy-Walker malformation. Three of the patients are also among the oldest reported with this syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 15:58:24