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Titolo:
THE AICARDI-GOUTIERES-SYNDROME - VARIABLE CLINICAL EXPRESSION IN 2 SIBLINGS
Autore:
VERRIPS A; HIEL JAP; GABREELS PJM; WESSELING P; ROTTEVEEL JJ;
Indirizzi:
UNIV NIJMEGEN HOSP,DEPT PEDIAT NEUROL,POB 9101 NL-6500 HB NIJMEGEN NETHERLANDS UNIV NIJMEGEN HOSP,DEPT PATHOL NL-6500 HB NIJMEGEN NETHERLANDS
Titolo Testata:
Pediatric neurology
fascicolo: 4, volume: 16, anno: 1997,
pagine: 323 - 325
SICI:
0887-8994(1997)16:4<323:TA-VCE>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
CEREBROSPINAL-FLUID LYMPHOCYTOSIS; PROGRESSIVE FAMILIAL ENCEPHALOPATHY; BASAL GANGLIA; CALCIFICATION; INFANCY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
9
Recensione:
Indirizzi per estratti:
Citazione:
A. Verrips et al., "THE AICARDI-GOUTIERES-SYNDROME - VARIABLE CLINICAL EXPRESSION IN 2 SIBLINGS", Pediatric neurology, 16(4), 1997, pp. 323-325

Abstract

We report 2 siblings with the Aicardi-Goutieres syndrome (encephalopathy, basal ganglia calcifications, and persistent cerebrospinal fluid pleiocytosis). The eldest sibling is severely retarded; his younger brother has only mild, slowly progressive neurological deficits, To our knowledge, such a striking difference in clinical expression has not been reported previously. (C) 1997 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 30/11/20 alle ore 10:10:28