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Titolo:
BIOCHEMICAL INVESTIGATION OF YOUNG HOSPITALIZED CHINESE CHILDREN - RESULTS OVER A 7-YEAR PERIOD
Autore:
PANG CP; LAW LK; MAK YT; SHEK CC; CHEUNG KL; MAK TWL; LAM CW; CHAN AYW; FOK TF;
Indirizzi:
CHINESE UNIV HONG KONG,PRINCE WALES HOSP,DEPT CHEM PATHOL SHATIN NT HONG KONG CHINESE UNIV HONG KONG,DEPT CHEM PATHOL HONG KONG HONG KONG CHINESE UNIV HONG KONG,DEPT PAEDIAT HONG KONG HONG KONG QUEEN ELIZABETH HOSP,DEPT CHEM PATHOL HONG KONG HONG KONG
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 72, anno: 1997,
pagine: 417 - 421
SICI:
0148-7299(1997)72:4<417:BIOYHC>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
INBORN-ERRORS; PHENYLKETONURIA; METABOLISM; NATION; INDIA;
Keywords:
INHERITED METABOLIC DISEASES; SOUTHERN CHINESE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
21
Recensione:
Indirizzi per estratti:
Citazione:
C.P. Pang et al., "BIOCHEMICAL INVESTIGATION OF YOUNG HOSPITALIZED CHINESE CHILDREN - RESULTS OVER A 7-YEAR PERIOD", American journal of medical genetics, 72(4), 1997, pp. 417-421

Abstract

During the seven years from January 1989 to December 1995, we investigated 2,269 Chinese infants and young children for metabolic disordersin Dong Kong, These young patients, all aged under 4 years and originated from southern China, were ill with no apparent cause and had clinical manifestations suggestive of inherited metabolic diseases, A spoturine and a plasma sample were obtained from each patient for biochemical analysis, including urinary organic acid identification and plasma amino acid analysis, Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of erotic aciduria were detected, There were also single suspected cases of medium-chain acyl-CoA dehydrogenase deficiency and isovaleric aciduria, No primary amino acid disorder, such as phenylketouria and maple syrup urine disease, has been detected, Our results suggest that a different pattern of inherited metabolic diseases exists in the southern Chinese when compared with the Chinese in other regions of China. (C) 1997 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/09/20 alle ore 08:01:55