A neonatal form of glycogen storage disease type IV
We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduc...
Gespeichert in:
| Veröffentlicht in: | Neurology 2003-08, Vol.61 (3), p.392-394 |
|---|---|
| Hauptverfasser: | , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 394 |
|---|---|
| container_issue | 3 |
| container_start_page | 392 |
| container_title | Neurology |
| container_volume | 61 |
| creator | Nambu, M Kawabe, K Fukuda, T Okuno, T B Ohta, S Nonaka, I Sugie, H Nishino, I |
| description | We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. The infant had a homozygous single nucleotide deletion in the open reading frame of GBE1 gene. |
| doi_str_mv | 10.1212/01.wnl.0000073141.61695.b3 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_73527816</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>73527816</sourcerecordid><originalsourceid>FETCH-LOGICAL-c381t-a1a0106b88b40be982a94ad9edc5681661fb3822c9ca650089cf9190a2520c083</originalsourceid><addsrcrecordid>eNpFkMtOwzAQRS0EoqXwC8hiwS5hxm4cm12peFSqYMNrZzmOUxUlcbFTVf17Ulqps5nF3Htn5hByg5AiQ3YHmG7aOoVd5RzHmAoUKksLfkKGmDGRCM6-T8kQgMmEy1wOyEWMPwD9MFfnZIBMIWcghoRPaOt8azpT08qHhvqKLuqt9QvX0tj5YBaOlsvoTHS0264cnX1ekrPK1NFdHfqIfDw9vk9fkvnb82w6mSeWS-wSgwYQRCFlMYbCKcmMGptSudJmQqIQWBVcMmaVNSIDkMpWChUYljGwIPmI3O5zV8H_rl3sdLOM1tW16U9eR53z_p0-qBfe74U2-BiDq_QqLBsTthpB75BpQP31OtdHZPofmX7gvfn6sGVdNK48Wg-M-B9tUmZd</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>73527816</pqid></control><display><type>article</type><title>A neonatal form of glycogen storage disease type IV</title><source>MEDLINE</source><source>Alma/SFX Local Collection</source><source>Journals@Ovid Complete</source><creator>Nambu, M ; Kawabe, K ; Fukuda, T ; Okuno, T B ; Ohta, S ; Nonaka, I ; Sugie, H ; Nishino, I</creator><creatorcontrib>Nambu, M ; Kawabe, K ; Fukuda, T ; Okuno, T B ; Ohta, S ; Nonaka, I ; Sugie, H ; Nishino, I</creatorcontrib><description>We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. The infant had a homozygous single nucleotide deletion in the open reading frame of GBE1 gene.</description><identifier>ISSN: 0028-3878</identifier><identifier>EISSN: 1526-632X</identifier><identifier>DOI: 10.1212/01.wnl.0000073141.61695.b3</identifier><identifier>PMID: 12913206</identifier><language>eng</language><publisher>United States</publisher><subject>1,4-alpha-Glucan Branching Enzyme - analysis ; 1,4-alpha-Glucan Branching Enzyme - deficiency ; 1,4-alpha-Glucan Branching Enzyme - genetics ; Cardiomyopathies - complications ; Cardiomyopathies - diagnosis ; Creatine Kinase - blood ; Disease Progression ; DNA Mutational Analysis ; Fatal Outcome ; Female ; Glucans - analysis ; Glycogen Storage Disease Type IV - complications ; Glycogen Storage Disease Type IV - diagnosis ; Glycogen Storage Disease Type IV - genetics ; Humans ; Inclusion Bodies - ultrastructure ; Infant, Newborn ; Muscle, Skeletal - chemistry ; Muscle, Skeletal - enzymology ; Muscle, Skeletal - pathology ; Mutation ; Polyhydramnios - complications ; Polyhydramnios - diagnostic imaging ; Pregnancy ; Sequence Deletion ; Ultrasonography</subject><ispartof>Neurology, 2003-08, Vol.61 (3), p.392-394</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c381t-a1a0106b88b40be982a94ad9edc5681661fb3822c9ca650089cf9190a2520c083</citedby><cites>FETCH-LOGICAL-c381t-a1a0106b88b40be982a94ad9edc5681661fb3822c9ca650089cf9190a2520c083</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12913206$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Nambu, M</creatorcontrib><creatorcontrib>Kawabe, K</creatorcontrib><creatorcontrib>Fukuda, T</creatorcontrib><creatorcontrib>Okuno, T B</creatorcontrib><creatorcontrib>Ohta, S</creatorcontrib><creatorcontrib>Nonaka, I</creatorcontrib><creatorcontrib>Sugie, H</creatorcontrib><creatorcontrib>Nishino, I</creatorcontrib><title>A neonatal form of glycogen storage disease type IV</title><title>Neurology</title><addtitle>Neurology</addtitle><description>We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. The infant had a homozygous single nucleotide deletion in the open reading frame of GBE1 gene.</description><subject>1,4-alpha-Glucan Branching Enzyme - analysis</subject><subject>1,4-alpha-Glucan Branching Enzyme - deficiency</subject><subject>1,4-alpha-Glucan Branching Enzyme - genetics</subject><subject>Cardiomyopathies - complications</subject><subject>Cardiomyopathies - diagnosis</subject><subject>Creatine Kinase - blood</subject><subject>Disease Progression</subject><subject>DNA Mutational Analysis</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Glucans - analysis</subject><subject>Glycogen Storage Disease Type IV - complications</subject><subject>Glycogen Storage Disease Type IV - diagnosis</subject><subject>Glycogen Storage Disease Type IV - genetics</subject><subject>Humans</subject><subject>Inclusion Bodies - ultrastructure</subject><subject>Infant, Newborn</subject><subject>Muscle, Skeletal - chemistry</subject><subject>Muscle, Skeletal - enzymology</subject><subject>Muscle, Skeletal - pathology</subject><subject>Mutation</subject><subject>Polyhydramnios - complications</subject><subject>Polyhydramnios - diagnostic imaging</subject><subject>Pregnancy</subject><subject>Sequence Deletion</subject><subject>Ultrasonography</subject><issn>0028-3878</issn><issn>1526-632X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpFkMtOwzAQRS0EoqXwC8hiwS5hxm4cm12peFSqYMNrZzmOUxUlcbFTVf17Ulqps5nF3Htn5hByg5AiQ3YHmG7aOoVd5RzHmAoUKksLfkKGmDGRCM6-T8kQgMmEy1wOyEWMPwD9MFfnZIBMIWcghoRPaOt8azpT08qHhvqKLuqt9QvX0tj5YBaOlsvoTHS0264cnX1ekrPK1NFdHfqIfDw9vk9fkvnb82w6mSeWS-wSgwYQRCFlMYbCKcmMGptSudJmQqIQWBVcMmaVNSIDkMpWChUYljGwIPmI3O5zV8H_rl3sdLOM1tW16U9eR53z_p0-qBfe74U2-BiDq_QqLBsTthpB75BpQP31OtdHZPofmX7gvfn6sGVdNK48Wg-M-B9tUmZd</recordid><startdate>20030812</startdate><enddate>20030812</enddate><creator>Nambu, M</creator><creator>Kawabe, K</creator><creator>Fukuda, T</creator><creator>Okuno, T B</creator><creator>Ohta, S</creator><creator>Nonaka, I</creator><creator>Sugie, H</creator><creator>Nishino, I</creator><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20030812</creationdate><title>A neonatal form of glycogen storage disease type IV</title><author>Nambu, M ; Kawabe, K ; Fukuda, T ; Okuno, T B ; Ohta, S ; Nonaka, I ; Sugie, H ; Nishino, I</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c381t-a1a0106b88b40be982a94ad9edc5681661fb3822c9ca650089cf9190a2520c083</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>1,4-alpha-Glucan Branching Enzyme - analysis</topic><topic>1,4-alpha-Glucan Branching Enzyme - deficiency</topic><topic>1,4-alpha-Glucan Branching Enzyme - genetics</topic><topic>Cardiomyopathies - complications</topic><topic>Cardiomyopathies - diagnosis</topic><topic>Creatine Kinase - blood</topic><topic>Disease Progression</topic><topic>DNA Mutational Analysis</topic><topic>Fatal Outcome</topic><topic>Female</topic><topic>Glucans - analysis</topic><topic>Glycogen Storage Disease Type IV - complications</topic><topic>Glycogen Storage Disease Type IV - diagnosis</topic><topic>Glycogen Storage Disease Type IV - genetics</topic><topic>Humans</topic><topic>Inclusion Bodies - ultrastructure</topic><topic>Infant, Newborn</topic><topic>Muscle, Skeletal - chemistry</topic><topic>Muscle, Skeletal - enzymology</topic><topic>Muscle, Skeletal - pathology</topic><topic>Mutation</topic><topic>Polyhydramnios - complications</topic><topic>Polyhydramnios - diagnostic imaging</topic><topic>Pregnancy</topic><topic>Sequence Deletion</topic><topic>Ultrasonography</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Nambu, M</creatorcontrib><creatorcontrib>Kawabe, K</creatorcontrib><creatorcontrib>Fukuda, T</creatorcontrib><creatorcontrib>Okuno, T B</creatorcontrib><creatorcontrib>Ohta, S</creatorcontrib><creatorcontrib>Nonaka, I</creatorcontrib><creatorcontrib>Sugie, H</creatorcontrib><creatorcontrib>Nishino, I</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Nambu, M</au><au>Kawabe, K</au><au>Fukuda, T</au><au>Okuno, T B</au><au>Ohta, S</au><au>Nonaka, I</au><au>Sugie, H</au><au>Nishino, I</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A neonatal form of glycogen storage disease type IV</atitle><jtitle>Neurology</jtitle><addtitle>Neurology</addtitle><date>2003-08-12</date><risdate>2003</risdate><volume>61</volume><issue>3</issue><spage>392</spage><epage>394</epage><pages>392-394</pages><issn>0028-3878</issn><eissn>1526-632X</eissn><abstract>We report of an infant with neonatal glycogen storage disease type IV (GSD IV) who was examined for severe hypotonia and cardiomyopathy. On the muscle biopsy there were many fibers with diastase-resistant polyglucosan bodies. Glycogen branching enzyme (GBE1) activity in the muscle was markedly reduced. The infant had a homozygous single nucleotide deletion in the open reading frame of GBE1 gene.</abstract><cop>United States</cop><pmid>12913206</pmid><doi>10.1212/01.wnl.0000073141.61695.b3</doi><tpages>3</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0028-3878 |
| ispartof | Neurology, 2003-08, Vol.61 (3), p.392-394 |
| issn | 0028-3878 1526-632X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_73527816 |
| source | MEDLINE; Alma/SFX Local Collection; Journals@Ovid Complete |
| subjects | 1,4-alpha-Glucan Branching Enzyme - analysis 1,4-alpha-Glucan Branching Enzyme - deficiency 1,4-alpha-Glucan Branching Enzyme - genetics Cardiomyopathies - complications Cardiomyopathies - diagnosis Creatine Kinase - blood Disease Progression DNA Mutational Analysis Fatal Outcome Female Glucans - analysis Glycogen Storage Disease Type IV - complications Glycogen Storage Disease Type IV - diagnosis Glycogen Storage Disease Type IV - genetics Humans Inclusion Bodies - ultrastructure Infant, Newborn Muscle, Skeletal - chemistry Muscle, Skeletal - enzymology Muscle, Skeletal - pathology Mutation Polyhydramnios - complications Polyhydramnios - diagnostic imaging Pregnancy Sequence Deletion Ultrasonography |
| title | A neonatal form of glycogen storage disease type IV |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-02T06%3A30%3A52IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20neonatal%20form%20of%20glycogen%20storage%20disease%20type%20IV&rft.jtitle=Neurology&rft.au=Nambu,%20M&rft.date=2003-08-12&rft.volume=61&rft.issue=3&rft.spage=392&rft.epage=394&rft.pages=392-394&rft.issn=0028-3878&rft.eissn=1526-632X&rft_id=info:doi/10.1212/01.wnl.0000073141.61695.b3&rft_dat=%3Cproquest_cross%3E73527816%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=73527816&rft_id=info:pmid/12913206&rfr_iscdi=true |