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- Publisher Website: 10.1023/A:1020116220624
- Scopus: eid_2-s2.0-0036746752
- PMID: 12408193
- WOS: WOS:000177969200011
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Article: A novel FUCA1 mutation causing fucosidosis in a Chinese boy
Title | A novel FUCA1 mutation causing fucosidosis in a Chinese boy |
---|---|
Authors | |
Issue Date | 2002 |
Publisher | Springer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0141-8955 |
Citation | Journal Of Inherited Metabolic Disease, 2002, v. 25 n. 5, p. 415-416 How to Cite? |
Abstract | We report a 6-year-old boy with an intermediate form of fucosidosis. |
Persistent Identifier | http://hdl.handle.net/10722/79842 |
ISSN | 2023 Impact Factor: 4.2 2023 SCImago Journal Rankings: 1.591 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Ip, P | en_HK |
dc.contributor.author | Hgoh, W | en_HK |
dc.contributor.author | Chan, KW | en_HK |
dc.contributor.author | Cheung, PT | en_HK |
dc.date.accessioned | 2010-09-06T07:59:22Z | - |
dc.date.available | 2010-09-06T07:59:22Z | - |
dc.date.issued | 2002 | en_HK |
dc.identifier.citation | Journal Of Inherited Metabolic Disease, 2002, v. 25 n. 5, p. 415-416 | en_HK |
dc.identifier.issn | 0141-8955 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/79842 | - |
dc.description.abstract | We report a 6-year-old boy with an intermediate form of fucosidosis. | en_HK |
dc.language | eng | en_HK |
dc.publisher | Springer Verlag Dordrecht. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0141-8955 | en_HK |
dc.relation.ispartof | Journal of Inherited Metabolic Disease | en_HK |
dc.title | A novel FUCA1 mutation causing fucosidosis in a Chinese boy | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0141-8955&volume=25&spage=415&epage=416&date=2002&atitle=A+novel+FUCA1+mutations+causing+fucosidosis+in+a+Chinese+boy | en_HK |
dc.identifier.email | Ip, P:patricip@hku.hk | en_HK |
dc.identifier.email | Cheung, PT:ptcheung@hkucc.hku.hk | en_HK |
dc.identifier.authority | Ip, P=rp01337 | en_HK |
dc.identifier.authority | Cheung, PT=rp00351 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1023/A:1020116220624 | en_HK |
dc.identifier.pmid | 12408193 | - |
dc.identifier.scopus | eid_2-s2.0-0036746752 | en_HK |
dc.identifier.hkuros | 74851 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0036746752&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 25 | en_HK |
dc.identifier.issue | 5 | en_HK |
dc.identifier.spage | 415 | en_HK |
dc.identifier.epage | 416 | en_HK |
dc.identifier.isi | WOS:000177969200011 | - |
dc.publisher.place | Netherlands | en_HK |
dc.identifier.scopusauthorid | Ip, P=7003622681 | en_HK |
dc.identifier.scopusauthorid | Hgoh, W=17340728200 | en_HK |
dc.identifier.scopusauthorid | Chan, KW=55230963900 | en_HK |
dc.identifier.scopusauthorid | Cheung, PT=7202595465 | en_HK |
dc.identifier.issnl | 0141-8955 | - |