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Article: Glycogen Storage Disease Type Ib: The First Case in Taiwan

TitleGlycogen Storage Disease Type Ib: The First Case in Taiwan
Authors
KeywordsG-CSF
glycogen storage disease type Ib
neutropenia
recurrent infection
Issue Date2009
PublisherElsevier. The Journal's web site is located at http://www.sciencedirect.com/science/journal/18759572
Citation
Pediatrics And Neonatology, 2009, v. 50 n. 3, p. 125-128 How to Cite?
AbstractGlycogen storage disease (GSD) type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6-phosphatase, was the diagnosis. The proband developed hypoglycemia shortly after birth. Dietary therapy was instituted immediately, but his growth was poor and there were repeated episodes of pyogenic infection. Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age after two mutations (c.354_355insC (p. W118fsX12) and c.736T >C (p.W246R)) were detected on his SLC37A4 gene. Regular administration of G-CSF rapidly improved his health and decreased his hospital stay. Although GSD Ib is very rare in Taiwan, correct diagnosis is essential to save the lives of such patients. © 2009 Taiwan Pediatric Association.
Persistent Identifierhttp://hdl.handle.net/10722/129497
ISSN
2015 Impact Factor: 1.319
2015 SCImago Journal Rankings: 0.546
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHsiao, HJen_HK
dc.contributor.authorChang, HHen_HK
dc.contributor.authorHwu, WLen_HK
dc.contributor.authorLam, CWen_HK
dc.contributor.authorLee, NCen_HK
dc.contributor.authorChien, YHen_HK
dc.date.accessioned2010-12-23T08:38:07Z-
dc.date.available2010-12-23T08:38:07Z-
dc.date.issued2009en_HK
dc.identifier.citationPediatrics And Neonatology, 2009, v. 50 n. 3, p. 125-128en_HK
dc.identifier.issn1875-9572en_HK
dc.identifier.urihttp://hdl.handle.net/10722/129497-
dc.description.abstractGlycogen storage disease (GSD) type Ib is caused by the deficiency of glucose-6-phosphate translocase activity. The elder brother of the proband died at age 20 months, and GSD Ia, a disease caused by the deficiency of glucose-6-phosphatase, was the diagnosis. The proband developed hypoglycemia shortly after birth. Dietary therapy was instituted immediately, but his growth was poor and there were repeated episodes of pyogenic infection. Neutropenia had been observed since 6 months of age, but the diagnosis of GSD Ib was established only at 18 months of age after two mutations (c.354_355insC (p. W118fsX12) and c.736T >C (p.W246R)) were detected on his SLC37A4 gene. Regular administration of G-CSF rapidly improved his health and decreased his hospital stay. Although GSD Ib is very rare in Taiwan, correct diagnosis is essential to save the lives of such patients. © 2009 Taiwan Pediatric Association.en_HK
dc.languageengen_US
dc.publisherElsevier. The Journal's web site is located at http://www.sciencedirect.com/science/journal/18759572en_HK
dc.relation.ispartofPediatrics and Neonatologyen_HK
dc.subjectG-CSFen_HK
dc.subjectglycogen storage disease type Iben_HK
dc.subjectneutropeniaen_HK
dc.subjectrecurrent infectionen_HK
dc.subject.meshAntiporters - genetics-
dc.subject.meshChild, Preschool-
dc.subject.meshFilgrastim - therapeutic use-
dc.subject.meshGlycogen Storage Disease Type I - diagnosis - drug therapy - genetics-
dc.subject.meshHumans-
dc.titleGlycogen Storage Disease Type Ib: The First Case in Taiwanen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1875-9572&volume=50&issue=3&spage=125&epage=128&date=2009&atitle=Glycogen+storage+disease+type+Ib:+the+first+case+in+Taiwan-
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/S1875-9572(09)60048-6en_HK
dc.identifier.pmid19579760-
dc.identifier.scopuseid_2-s2.0-67650763111en_HK
dc.identifier.hkuros176802en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-67650763111&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume50en_HK
dc.identifier.issue3en_HK
dc.identifier.spage125en_HK
dc.identifier.epage128en_HK
dc.identifier.isiWOS:000268255500009-
dc.publisher.placeTaiwan, Republic of Chinaen_HK

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