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Article: Biochemical investigation of young hospitalized Chinese children: Results over a 7-year period

TitleBiochemical investigation of young hospitalized Chinese children: Results over a 7-year period
Authors
Issue Date1997
Citation
American Journal Of Medical Genetics, 1997, v. 72 n. 4, p. 417-421 How to Cite?
AbstractDuring the seven years from January 1989 to December 1995, we investigated 2,269 Chinese infants and young children for metabolic disorders in Hong 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 spot urine 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 orotic 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.
Persistent Identifierhttp://hdl.handle.net/10722/148081
ISSN
2003 Impact Factor: -999.999
2009 SCImago Journal Rankings: 1.100
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorPang, CPen_US
dc.contributor.authorLaw, LKen_US
dc.contributor.authorMak, YTen_US
dc.contributor.authorShek, CCen_US
dc.contributor.authorCheung, KLen_US
dc.contributor.authorMak, TWLen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorChan, AYWen_US
dc.contributor.authorFok, TFen_US
dc.date.accessioned2012-05-29T06:10:44Z-
dc.date.available2012-05-29T06:10:44Z-
dc.date.issued1997en_US
dc.identifier.citationAmerican Journal Of Medical Genetics, 1997, v. 72 n. 4, p. 417-421en_US
dc.identifier.issn0148-7299en_US
dc.identifier.urihttp://hdl.handle.net/10722/148081-
dc.description.abstractDuring the seven years from January 1989 to December 1995, we investigated 2,269 Chinese infants and young children for metabolic disorders in Hong 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 spot urine 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 orotic 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.en_US
dc.languageengen_US
dc.relation.ispartofAmerican Journal of Medical Geneticsen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshFemaleen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshInpatientsen_US
dc.subject.meshMaleen_US
dc.subject.meshMetabolism, Inborn Errors - Diagnosis - Metabolismen_US
dc.titleBiochemical investigation of young hospitalized Chinese children: Results over a 7-year perioden_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1002/(SICI)1096-8628(19971112)72:4<417::AID-AJMG9>3.0.CO;2-Nen_US
dc.identifier.pmid9375724-
dc.identifier.scopuseid_2-s2.0-0030867054en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030867054&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume72en_US
dc.identifier.issue4en_US
dc.identifier.spage417en_US
dc.identifier.epage421en_US
dc.identifier.isiWOS:A1997YD48100009-
dc.publisher.placeUnited Statesen_US

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