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Article: Inborn errors of metabolism: Clinical approach and management

TitleInborn errors of metabolism: Clinical approach and management
Authors
Keywordsdiet therapy
drug therapy
metabolism, inborn errors
Issue Date1996
PublisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.html
Citation
Hong Kong Medical Journal, 1996, v. 2 n. 3, p. 274-281 How to Cite?
AbstractAlthough individual metabolic disorders are rare, collectively, inborn errors of metabolism are not uncommon and paediatricians should be alert to the possibility of such disorders. The presenting symptoms are frequently non-specific and may include lethargy, poor feeding, vomiting, coma, and seizures. After investigations, appropriate therapeutic options including exchange transfusion, peritoneal- and haemo-dialysis, forced diuresis, mega-dosing of vitamin cofactors, and special dietary therapy can be instituted, depending on the diagnosis. Somatic gene therapy may offer hope of a cure for inborn errors of metabolism in the future.
Persistent Identifierhttp://hdl.handle.net/10722/45221
ISSN
2015 Impact Factor: 0.887
2015 SCImago Journal Rankings: 0.279

 

DC FieldValueLanguage
dc.contributor.authorLow, LCKen_HK
dc.date.accessioned2007-10-30T06:20:12Z-
dc.date.available2007-10-30T06:20:12Z-
dc.date.issued1996en_HK
dc.identifier.citationHong Kong Medical Journal, 1996, v. 2 n. 3, p. 274-281en_HK
dc.identifier.issn1024-2708en_HK
dc.identifier.urihttp://hdl.handle.net/10722/45221-
dc.description.abstractAlthough individual metabolic disorders are rare, collectively, inborn errors of metabolism are not uncommon and paediatricians should be alert to the possibility of such disorders. The presenting symptoms are frequently non-specific and may include lethargy, poor feeding, vomiting, coma, and seizures. After investigations, appropriate therapeutic options including exchange transfusion, peritoneal- and haemo-dialysis, forced diuresis, mega-dosing of vitamin cofactors, and special dietary therapy can be instituted, depending on the diagnosis. Somatic gene therapy may offer hope of a cure for inborn errors of metabolism in the future.en_HK
dc.format.extent497684 bytes-
dc.format.extent2234 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypetext/plain-
dc.languageengen_HK
dc.publisherHong Kong Medical Association. The Journal's web site is located at http://www.hkmj.org/resources/supp.htmlen_HK
dc.relation.ispartofHong Kong Medical Journalen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectdiet therapyen_HK
dc.subjectdrug therapyen_HK
dc.subjectmetabolism, inborn errorsen_HK
dc.titleInborn errors of metabolism: Clinical approach and managementen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1024-2708&volume=2&issue=3&spage=274&epage=281&date=1996&atitle=Inborn+errors+of+metabolism:+clinical+approach+and+managementen_HK
dc.identifier.emailLow, LCK: lcklow@hkucc.hku.hken_HK
dc.identifier.authorityLow, LCK=rp00337en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.scopuseid_2-s2.0-0029850306en_HK
dc.identifier.hkuros21111-
dc.identifier.volume2en_HK
dc.identifier.issue3en_HK
dc.identifier.spage274en_HK
dc.identifier.epage281en_HK
dc.publisher.placeHong Kongen_HK
dc.identifier.scopusauthoridLow, LCK=7007049461en_HK

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