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Article: COG5-CDG with a Mild Neurohepatic Presentation

TitleCOG5-CDG with a Mild Neurohepatic Presentation
Authors
KeywordsBiliary atresia
Conserve Oligomeric Golgi
Cutis laxa
Intelligent quotient
Serum transferrin
Issue Date2012
PublisherSSIEM and Springer-verlag Berlin Heidelberg.
Citation
JIMD Reports, 2012, v. 3, p. 67-70 How to Cite?
AbstractThe conserved oligomeric Golgi (COG) complex is an eight subunit protein involved in the retrograde transport of Golgi components. It affects the localization of several Golgi glycosyltransferases and hence is involved in N- and O-glycosylation. Genetic defects in this complex belong to the rapidly expanding family of congenital disorders of glycosylation (CDG). Patients have been reported with defects of subunit 1 (CDG1-CDG), subunit 4 (CDG4-CDG), subunit 5 (CDG5-CDG), subunit 6 (CDG6-CDG), subunit 7 (CDG7-CDG), and subunit 8 (CDG8-CDG). This paper is on the second reported patient with COG5-CDG. She showed a mild neurohepatic disease with central as well as peripheral neurological involvement while in the first reported patient (with a different mutation) only mild central neurological involvement was reported.
Persistent Identifierhttp://hdl.handle.net/10722/152781
ISSN
2023 SCImago Journal Rankings: 0.532

 

DC FieldValueLanguage
dc.contributor.authorFung, CWen_US
dc.contributor.authorMatthijs, Gen_US
dc.contributor.authorSturiale, Len_US
dc.contributor.authorGarozzo, Den_US
dc.contributor.authorWong, KYen_US
dc.contributor.authorWong, RMSen_US
dc.contributor.authorWong, VCNen_US
dc.contributor.authorJaeken, Jen_US
dc.date.accessioned2012-07-16T09:48:31Z-
dc.date.available2012-07-16T09:48:31Z-
dc.date.issued2012en_US
dc.identifier.citationJIMD Reports, 2012, v. 3, p. 67-70en_US
dc.identifier.issn2192-8304-
dc.identifier.urihttp://hdl.handle.net/10722/152781-
dc.description.abstractThe conserved oligomeric Golgi (COG) complex is an eight subunit protein involved in the retrograde transport of Golgi components. It affects the localization of several Golgi glycosyltransferases and hence is involved in N- and O-glycosylation. Genetic defects in this complex belong to the rapidly expanding family of congenital disorders of glycosylation (CDG). Patients have been reported with defects of subunit 1 (CDG1-CDG), subunit 4 (CDG4-CDG), subunit 5 (CDG5-CDG), subunit 6 (CDG6-CDG), subunit 7 (CDG7-CDG), and subunit 8 (CDG8-CDG). This paper is on the second reported patient with COG5-CDG. She showed a mild neurohepatic disease with central as well as peripheral neurological involvement while in the first reported patient (with a different mutation) only mild central neurological involvement was reported.-
dc.languageengen_US
dc.publisherSSIEM and Springer-verlag Berlin Heidelberg.en_US
dc.relation.ispartofJIMD Reportsen_US
dc.subjectBiliary atresia-
dc.subjectConserve Oligomeric Golgi-
dc.subjectCutis laxa-
dc.subjectIntelligent quotient-
dc.subjectSerum transferrin-
dc.titleCOG5-CDG with a Mild Neurohepatic Presentationen_US
dc.typeArticleen_US
dc.identifier.emailFung, CW: fcw1209m@hkucc.hku.hken_US
dc.identifier.emailWong, KY: kywongb@hkucc.hku.hken_US
dc.identifier.emailWong, RMS: wongmsr@hkucc.hku.hken_US
dc.identifier.emailWong, VCN: vcnwong@hku.hken_US
dc.identifier.authorityWong, VCN=rp00334en_US
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/8904_2011_61-
dc.identifier.scopuseid_2-s2.0-84914698589-
dc.identifier.hkuros200480en_US
dc.identifier.volume3en_US
dc.identifier.spage67en_US
dc.identifier.epage70en_US
dc.identifier.eissn2192-8312-
dc.identifier.issnl2192-8304-

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