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Titolo:
GALLOWAY-MOWAT SYNDROME IN TAIWAN
Autore:
HOU JW; WANG TR;
Indirizzi:
NATL TAIWAN UNIV HOSP,DEPT PEDIAT,7 CHUNG SHAN S RD TAIPEI 10002 TAIWAN
Titolo Testata:
American journal of medical genetics
fascicolo: 3, volume: 58, anno: 1995,
pagine: 245 - 248
SICI:
0148-7299(1995)58:3<245:GSIT>2.0.ZU;2-6
Fonte:
ISI
Lingua:
ENG
Keywords:
CONGENITAL NEPHROSIS; MICROCEPHALY; PORENCEPHALY; CONTRACTURAL ARACHNODACTYLY; GALLOWAY-MOWAT SYNDROME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
6
Recensione:
Indirizzi per estratti:
Citazione:
J.W. Hou e T.R. Wang, "GALLOWAY-MOWAT SYNDROME IN TAIWAN", American journal of medical genetics, 58(3), 1995, pp. 245-248

Abstract

We report on two Chinese female infants with multiple congenital anomalies: microcephaly, apparent porencephaly or encephalomalacia, developmental delay, minor facial anomalies, and contractural arachnodactyly. In the first patient, focal glomerulosclerosis was diagnosed histologically by percutaneous renal biopsy due to proteinuria with hematuria. Congenital hypothyroidism presenting with markedly low T3 and T4 wasalso noted. She died at age 5 months. The second patient had a very similar condition but less severe brain and kidney malformations. A variant of Galloway-Mowat syndrome is suspected. (C) 1995 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 01:58:08