Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis
A new type of glycogenosis due to deficiency of muscle phosphofructokinase is described. It occurred in three siblings from a single family, who had suffered from intolerance of exercise since childhood. This disease is characterized by the marked accumulation of hexose monophosphates and moderate g...
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| Veröffentlicht in: | Biochemical and biophysical research communications 1965-05, Vol.19 (4), p.517-523 |
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| container_title | Biochemical and biophysical research communications |
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| creator | Tarui, Seiichiro Giichi, Okuno Ikura, Yuji Tanaka, Takehiko Suda, Masami Nishikawa, Mitsuo |
| description | A new type of glycogenosis due to deficiency of muscle phosphofructokinase is described. It occurred in three siblings from a single family, who had suffered from intolerance of exercise since childhood. This disease is characterized by the marked accumulation of hexose monophosphates and moderate glycogen deposition in skeletal muscles. Erythrocyte phosphofructokinase is only partially affected in this disease in contrast to the almost complete lack of muscle phosphofructokinase. |
| doi_str_mv | 10.1016/0006-291X(65)90156-7 |
| format | Article |
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Erythrocyte phosphofructokinase is only partially affected in this disease in contrast to the almost complete lack of muscle phosphofructokinase.</description><identifier>ISSN: 0006-291X</identifier><identifier>EISSN: 1090-2104</identifier><identifier>DOI: 10.1016/0006-291X(65)90156-7</identifier><identifier>PMID: 14339001</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Erythrocytes ; Genetics, Medical ; Glycogen Storage Disease ; Glycogen Storage Disease Type VII ; Glycolysis ; Humans ; Lactates ; Muscle, Skeletal ; Muscles ; Old Medline ; Phosphofructokinase-1 ; Phosphofructokinases ; Physical Exertion</subject><ispartof>Biochemical and biophysical research communications, 1965-05, Vol.19 (4), p.517-523</ispartof><rights>1965</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c475t-aca96bcbef06748479c56d6fe2af439125508c9d8d8797f32f1e64bd195805473</citedby><cites>FETCH-LOGICAL-c475t-aca96bcbef06748479c56d6fe2af439125508c9d8d8797f32f1e64bd195805473</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/0006-291X(65)90156-7$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14339001$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Tarui, Seiichiro</creatorcontrib><creatorcontrib>Giichi, Okuno</creatorcontrib><creatorcontrib>Ikura, Yuji</creatorcontrib><creatorcontrib>Tanaka, Takehiko</creatorcontrib><creatorcontrib>Suda, Masami</creatorcontrib><creatorcontrib>Nishikawa, Mitsuo</creatorcontrib><title>Phosphofructokinase deficiency in skeletal muscle. 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Erythrocyte phosphofructokinase is only partially affected in this disease in contrast to the almost complete lack of muscle phosphofructokinase.</description><subject>Erythrocytes</subject><subject>Genetics, Medical</subject><subject>Glycogen Storage Disease</subject><subject>Glycogen Storage Disease Type VII</subject><subject>Glycolysis</subject><subject>Humans</subject><subject>Lactates</subject><subject>Muscle, Skeletal</subject><subject>Muscles</subject><subject>Old Medline</subject><subject>Phosphofructokinase-1</subject><subject>Phosphofructokinases</subject><subject>Physical Exertion</subject><issn>0006-291X</issn><issn>1090-2104</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1965</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kF1LwzAUhoMobk7_gUiuRC-qSZukzY0whl8w0QsF70KbnmxxXVObVum_t92G3nl1OPC87-E8CJ1SckUJFdeEEBGEkr5fCH4pCeUiiPfQmBJJgpASto_Gv8gIHXn_QQilTMhDNKIsimS_jtHTy9L5aulM3erGrWyZesA5GKstlLrDtsR-BQU0aYHXrdcFXOEpLuEbN10F2Bm8KDrtFlA6b_0xOjBp4eFkNyfo7e72dfYQzJ_vH2fTeaBZzJsg1akUmc7AEBGzhMVSc5ELA2FqWCRpyDlJtMyTPIllbKLQUBAsy6nkCeEsjibofNtb1e6zBd-otfUaiiItwbVeJYySKBaiB9kW1LXzvgajqtqu07pTlKhBoxocqcGRElxtNKqh_2zX32ZryP9CO289cLMFoP_yy0Kt_EYY5LYG3ajc2f8v_ADsB4Ha</recordid><startdate>19650503</startdate><enddate>19650503</enddate><creator>Tarui, Seiichiro</creator><creator>Giichi, Okuno</creator><creator>Ikura, Yuji</creator><creator>Tanaka, Takehiko</creator><creator>Suda, Masami</creator><creator>Nishikawa, Mitsuo</creator><general>Elsevier Inc</general><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>19650503</creationdate><title>Phosphofructokinase deficiency in skeletal muscle. 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A new type of glycogenosis</atitle><jtitle>Biochemical and biophysical research communications</jtitle><addtitle>Biochem Biophys Res Commun</addtitle><date>1965-05-03</date><risdate>1965</risdate><volume>19</volume><issue>4</issue><spage>517</spage><epage>523</epage><pages>517-523</pages><issn>0006-291X</issn><eissn>1090-2104</eissn><abstract>A new type of glycogenosis due to deficiency of muscle phosphofructokinase is described. It occurred in three siblings from a single family, who had suffered from intolerance of exercise since childhood. This disease is characterized by the marked accumulation of hexose monophosphates and moderate glycogen deposition in skeletal muscles. Erythrocyte phosphofructokinase is only partially affected in this disease in contrast to the almost complete lack of muscle phosphofructokinase.</abstract><cop>United States</cop><pub>Elsevier Inc</pub><pmid>14339001</pmid><doi>10.1016/0006-291X(65)90156-7</doi><tpages>7</tpages></addata></record> |
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| ispartof | Biochemical and biophysical research communications, 1965-05, Vol.19 (4), p.517-523 |
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| language | eng |
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| source | MEDLINE; ScienceDirect Journals (5 years ago - present) |
| subjects | Erythrocytes Genetics, Medical Glycogen Storage Disease Glycogen Storage Disease Type VII Glycolysis Humans Lactates Muscle, Skeletal Muscles Old Medline Phosphofructokinase-1 Phosphofructokinases Physical Exertion |
| title | Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis |
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