당원병 1b 형 1례
We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than $500/{\mu}L$ by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6P...
Gespeichert in:
| Veröffentlicht in: | Korean journal of pediatrics 2009, Vol.52 (12), p.1383-1387 |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | kor |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 1387 |
|---|---|
| container_issue | 12 |
| container_start_page | 1383 |
| container_title | Korean journal of pediatrics |
| container_volume | 52 |
| creator | 김문선 박재복 기창석 김진경 Kim, Moon-Sun Park, Jae-Bok Ki, Chang-Seok Kim, Jin-Kyung |
| description | We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than $500/{\mu}L$ by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp). 저자들은 생후 18개월 여아에서 당원병 Ib 형을 경험하였기에 보고하는 바이다. 진단 시에는 호중구 감소증이 없었고, 이후 점차 중성구가 감소하여 3세에 절대적 호중구수가 $500/{\mu}L$ 미만을 보였다. 반복적인 세균 감염은 없었다. 유전자(SLC37A4) 검사에서 복합 이형접합체 과오돌연변이(Ala148Val/Gly273Asp)를 확인할 수 있었다. |
| format | Article |
| fullrecord | <record><control><sourceid>kisti</sourceid><recordid>TN_cdi_kisti_ndsl_JAKO200910103475210</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>JAKO200910103475210</sourcerecordid><originalsourceid>FETCH-kisti_ndsl_JAKO2009101034752103</originalsourceid><addsrcrecordid>eNpjYuA0MrA00jU3MrVgYeA0NDe20DU0MDPkYOAqLs4yMDAzMTEz4mQQfd29883sCa83T1QwTFJ4O2OqguHrhQ08DKxpiTnFqbxQmptB1c01xNlDNzuzuCQzPi-lOCfey9Hb38jAwNLQwNDA2MTc1AhIEasOAFr8K9k</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>당원병 1b 형 1례</title><source>KoreaMed Synapse</source><source>DOAJ Directory of Open Access Journals</source><source>KoreaMed Open Access</source><creator>김문선 ; 박재복 ; 기창석 ; 김진경 ; Kim, Moon-Sun ; Park, Jae-Bok ; Ki, Chang-Seok ; Kim, Jin-Kyung</creator><creatorcontrib>김문선 ; 박재복 ; 기창석 ; 김진경 ; Kim, Moon-Sun ; Park, Jae-Bok ; Ki, Chang-Seok ; Kim, Jin-Kyung</creatorcontrib><description>We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than $500/{\mu}L$ by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp). 저자들은 생후 18개월 여아에서 당원병 Ib 형을 경험하였기에 보고하는 바이다. 진단 시에는 호중구 감소증이 없었고, 이후 점차 중성구가 감소하여 3세에 절대적 호중구수가 $500/{\mu}L$ 미만을 보였다. 반복적인 세균 감염은 없었다. 유전자(SLC37A4) 검사에서 복합 이형접합체 과오돌연변이(Ala148Val/Gly273Asp)를 확인할 수 있었다.</description><identifier>ISSN: 1738-1061</identifier><identifier>EISSN: 2092-7258</identifier><language>kor</language><ispartof>Korean journal of pediatrics, 2009, Vol.52 (12), p.1383-1387</ispartof><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,4024</link.rule.ids></links><search><creatorcontrib>김문선</creatorcontrib><creatorcontrib>박재복</creatorcontrib><creatorcontrib>기창석</creatorcontrib><creatorcontrib>김진경</creatorcontrib><creatorcontrib>Kim, Moon-Sun</creatorcontrib><creatorcontrib>Park, Jae-Bok</creatorcontrib><creatorcontrib>Ki, Chang-Seok</creatorcontrib><creatorcontrib>Kim, Jin-Kyung</creatorcontrib><title>당원병 1b 형 1례</title><title>Korean journal of pediatrics</title><addtitle>Korean journal of pediatrics</addtitle><description>We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than $500/{\mu}L$ by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp). 저자들은 생후 18개월 여아에서 당원병 Ib 형을 경험하였기에 보고하는 바이다. 진단 시에는 호중구 감소증이 없었고, 이후 점차 중성구가 감소하여 3세에 절대적 호중구수가 $500/{\mu}L$ 미만을 보였다. 반복적인 세균 감염은 없었다. 유전자(SLC37A4) 검사에서 복합 이형접합체 과오돌연변이(Ala148Val/Gly273Asp)를 확인할 수 있었다.</description><issn>1738-1061</issn><issn>2092-7258</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>JDI</sourceid><recordid>eNpjYuA0MrA00jU3MrVgYeA0NDe20DU0MDPkYOAqLs4yMDAzMTEz4mQQfd29883sCa83T1QwTFJ4O2OqguHrhQ08DKxpiTnFqbxQmptB1c01xNlDNzuzuCQzPi-lOCfey9Hb38jAwNLQwNDA2MTc1AhIEasOAFr8K9k</recordid><startdate>2009</startdate><enddate>2009</enddate><creator>김문선</creator><creator>박재복</creator><creator>기창석</creator><creator>김진경</creator><creator>Kim, Moon-Sun</creator><creator>Park, Jae-Bok</creator><creator>Ki, Chang-Seok</creator><creator>Kim, Jin-Kyung</creator><scope>JDI</scope></search><sort><creationdate>2009</creationdate><title>당원병 1b 형 1례</title><author>김문선 ; 박재복 ; 기창석 ; 김진경 ; Kim, Moon-Sun ; Park, Jae-Bok ; Ki, Chang-Seok ; Kim, Jin-Kyung</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-kisti_ndsl_JAKO2009101034752103</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>kor</language><creationdate>2009</creationdate><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>김문선</creatorcontrib><creatorcontrib>박재복</creatorcontrib><creatorcontrib>기창석</creatorcontrib><creatorcontrib>김진경</creatorcontrib><creatorcontrib>Kim, Moon-Sun</creatorcontrib><creatorcontrib>Park, Jae-Bok</creatorcontrib><creatorcontrib>Ki, Chang-Seok</creatorcontrib><creatorcontrib>Kim, Jin-Kyung</creatorcontrib><collection>KoreaScience</collection><jtitle>Korean journal of pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>김문선</au><au>박재복</au><au>기창석</au><au>김진경</au><au>Kim, Moon-Sun</au><au>Park, Jae-Bok</au><au>Ki, Chang-Seok</au><au>Kim, Jin-Kyung</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>당원병 1b 형 1례</atitle><jtitle>Korean journal of pediatrics</jtitle><addtitle>Korean journal of pediatrics</addtitle><date>2009</date><risdate>2009</risdate><volume>52</volume><issue>12</issue><spage>1383</spage><epage>1387</epage><pages>1383-1387</pages><issn>1738-1061</issn><eissn>2092-7258</eissn><abstract>We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than $500/{\mu}L$ by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp). 저자들은 생후 18개월 여아에서 당원병 Ib 형을 경험하였기에 보고하는 바이다. 진단 시에는 호중구 감소증이 없었고, 이후 점차 중성구가 감소하여 3세에 절대적 호중구수가 $500/{\mu}L$ 미만을 보였다. 반복적인 세균 감염은 없었다. 유전자(SLC37A4) 검사에서 복합 이형접합체 과오돌연변이(Ala148Val/Gly273Asp)를 확인할 수 있었다.</abstract><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1738-1061 |
| ispartof | Korean journal of pediatrics, 2009, Vol.52 (12), p.1383-1387 |
| issn | 1738-1061 2092-7258 |
| language | kor |
| recordid | cdi_kisti_ndsl_JAKO200910103475210 |
| source | KoreaMed Synapse; DOAJ Directory of Open Access Journals; KoreaMed Open Access |
| title | 당원병 1b 형 1례 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-07T08%3A46%3A25IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-kisti&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=%EB%8B%B9%EC%9B%90%EB%B3%91%201b%20%ED%98%95%201%EB%A1%80&rft.jtitle=Korean%20journal%20of%20pediatrics&rft.au=%EA%B9%80%EB%AC%B8%EC%84%A0&rft.date=2009&rft.volume=52&rft.issue=12&rft.spage=1383&rft.epage=1387&rft.pages=1383-1387&rft.issn=1738-1061&rft.eissn=2092-7258&rft_id=info:doi/&rft_dat=%3Ckisti%3EJAKO200910103475210%3C/kisti%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_id=info:pmid/&rfr_iscdi=true |