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Golgi nucleotide sugar transport and leukocyte adhesion deficiency II
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Published in: | The Journal of clinical investigation 2001-07, Vol.108 (1), p.3-6 |
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container_title | The Journal of clinical investigation |
container_volume | 108 |
creator | Hirschberg, C B |
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doi_str_mv | 10.1172/jci200113480 |
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genetics ; Biological Transport ; Carbohydrate Metabolism, Inborn Errors - genetics ; Carbohydrate Metabolism, Inborn Errors - metabolism ; Carrier Proteins - chemistry ; Carrier Proteins - genetics ; Carrier Proteins - metabolism ; Cell Line ; Child, Preschool ; Consanguinity ; Dimerization ; DNA Mutational Analysis ; Dogs ; Ethnic Groups - genetics ; Eukaryotic Cells - metabolism ; Fetal Growth Retardation - genetics ; Fucose - metabolism ; Fucose - therapeutic use ; Genetic Heterogeneity ; Genetic Predisposition to Disease ; Glycoproteins - biosynthesis ; Glycosylation ; Golgi Apparatus - metabolism ; Guanosine Diphosphate Fucose - metabolism ; Humans ; Infection - etiology ; Intellectual Disability - genetics ; Invertebrates ; Lectins - toxicity ; Leukocyte-Adhesion Deficiency Syndrome - classification ; Leukocyte-Adhesion Deficiency Syndrome - drug therapy ; Leukocyte-Adhesion Deficiency Syndrome - genetics ; Leukocyte-Adhesion Deficiency Syndrome - metabolism ; Male ; Mammals ; Monosaccharide Transport Proteins ; Nucleoside Diphosphate Sugars - 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genetics</subject><subject>Biological Transport</subject><subject>Carbohydrate Metabolism, Inborn Errors - genetics</subject><subject>Carbohydrate Metabolism, Inborn Errors - metabolism</subject><subject>Carrier Proteins - chemistry</subject><subject>Carrier Proteins - genetics</subject><subject>Carrier Proteins - metabolism</subject><subject>Cell Line</subject><subject>Child, Preschool</subject><subject>Consanguinity</subject><subject>Dimerization</subject><subject>DNA Mutational Analysis</subject><subject>Dogs</subject><subject>Ethnic Groups - genetics</subject><subject>Eukaryotic Cells - metabolism</subject><subject>Fetal Growth Retardation - genetics</subject><subject>Fucose - metabolism</subject><subject>Fucose - therapeutic use</subject><subject>Genetic Heterogeneity</subject><subject>Genetic Predisposition to Disease</subject><subject>Glycoproteins - biosynthesis</subject><subject>Glycosylation</subject><subject>Golgi Apparatus - metabolism</subject><subject>Guanosine Diphosphate Fucose - metabolism</subject><subject>Humans</subject><subject>Infection - etiology</subject><subject>Intellectual Disability - genetics</subject><subject>Invertebrates</subject><subject>Lectins - toxicity</subject><subject>Leukocyte-Adhesion Deficiency Syndrome - classification</subject><subject>Leukocyte-Adhesion Deficiency Syndrome - drug therapy</subject><subject>Leukocyte-Adhesion Deficiency Syndrome - genetics</subject><subject>Leukocyte-Adhesion Deficiency Syndrome - metabolism</subject><subject>Male</subject><subject>Mammals</subject><subject>Monosaccharide Transport Proteins</subject><subject>Nucleoside Diphosphate Sugars - metabolism</subject><subject>Phenotype</subject><subject>Point Mutation</subject><subject>Protein Processing, Post-Translational - genetics</subject><subject>Recurrence</subject><subject>Selection, Genetic</subject><subject>Spotlight</subject><subject>Turkey</subject><issn>0021-9738</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><recordid>eNpVkDFPwzAUhD2AaClszMg_gIAd23E8MKCqlKBKLDBb7rPTuqR2FSdI_fcEtSowveHuu3s6hG4ouadU5g8b8DkhlDJekjM0JiSnmZKsHKHLlDaDwrngF2hEKWeCczVGs3lsVh6HHhoXO28dTv3KtLhrTUi72HbYBIsb139G2HcOG7t2yceAras9eBdgj6vqCp3Xpknu-ngn6ON59j59yRZv82r6tMhgKO6yYpmXUEiraM2kMYKXFIjgslQqBwegmCoNk45LSmorjaKu5kUh-BKEBEbZBD0ecnf9cussuDD82ehd67em3etovP6vBL_Wq_ilc6KYIAN_d-ChjSm1rj6hlOifBfXrtDotONhv_9b9mo_zsW_lvG8j</recordid><startdate>20010701</startdate><enddate>20010701</enddate><creator>Hirschberg, C B</creator><general>American Society for Clinical Investigation</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>5PM</scope></search><sort><creationdate>20010701</creationdate><title>Golgi nucleotide sugar transport and leukocyte adhesion deficiency II</title><author>Hirschberg, C B</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c445t-6b28c67d91f37aa5481c05478992cecc9398a37e4710fd7a91ef46654bc57c313</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Amino Acid Substitution</topic><topic>Animals</topic><topic>Arabs - genetics</topic><topic>Biological Transport</topic><topic>Carbohydrate Metabolism, Inborn Errors - genetics</topic><topic>Carbohydrate Metabolism, Inborn Errors - metabolism</topic><topic>Carrier Proteins - chemistry</topic><topic>Carrier Proteins - genetics</topic><topic>Carrier Proteins - metabolism</topic><topic>Cell Line</topic><topic>Child, Preschool</topic><topic>Consanguinity</topic><topic>Dimerization</topic><topic>DNA Mutational Analysis</topic><topic>Dogs</topic><topic>Ethnic Groups - genetics</topic><topic>Eukaryotic Cells - metabolism</topic><topic>Fetal Growth Retardation - genetics</topic><topic>Fucose - metabolism</topic><topic>Fucose - therapeutic use</topic><topic>Genetic Heterogeneity</topic><topic>Genetic Predisposition to Disease</topic><topic>Glycoproteins - biosynthesis</topic><topic>Glycosylation</topic><topic>Golgi Apparatus - metabolism</topic><topic>Guanosine Diphosphate Fucose - metabolism</topic><topic>Humans</topic><topic>Infection - etiology</topic><topic>Intellectual Disability - genetics</topic><topic>Invertebrates</topic><topic>Lectins - toxicity</topic><topic>Leukocyte-Adhesion Deficiency Syndrome - classification</topic><topic>Leukocyte-Adhesion Deficiency Syndrome - drug therapy</topic><topic>Leukocyte-Adhesion Deficiency Syndrome - genetics</topic><topic>Leukocyte-Adhesion Deficiency Syndrome - metabolism</topic><topic>Male</topic><topic>Mammals</topic><topic>Monosaccharide Transport Proteins</topic><topic>Nucleoside Diphosphate Sugars - metabolism</topic><topic>Phenotype</topic><topic>Point Mutation</topic><topic>Protein Processing, Post-Translational - genetics</topic><topic>Recurrence</topic><topic>Selection, Genetic</topic><topic>Spotlight</topic><topic>Turkey</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hirschberg, C B</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>The Journal of clinical investigation</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hirschberg, C B</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Golgi nucleotide sugar transport and leukocyte adhesion deficiency II</atitle><jtitle>The Journal of clinical investigation</jtitle><addtitle>J Clin Invest</addtitle><date>2001-07-01</date><risdate>2001</risdate><volume>108</volume><issue>1</issue><spage>3</spage><epage>6</epage><pages>3-6</pages><issn>0021-9738</issn><cop>United States</cop><pub>American Society for Clinical Investigation</pub><pmid>11435449</pmid><doi>10.1172/jci200113480</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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identifier | ISSN: 0021-9738 |
ispartof | The Journal of clinical investigation, 2001-07, Vol.108 (1), p.3-6 |
issn | 0021-9738 |
language | eng |
recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_209350 |
source | Free E-Journal (出版社公開部分のみ); PubMed Central |
subjects | Amino Acid Substitution Animals Arabs - genetics Biological Transport Carbohydrate Metabolism, Inborn Errors - genetics Carbohydrate Metabolism, Inborn Errors - metabolism Carrier Proteins - chemistry Carrier Proteins - genetics Carrier Proteins - metabolism Cell Line Child, Preschool Consanguinity Dimerization DNA Mutational Analysis Dogs Ethnic Groups - genetics Eukaryotic Cells - metabolism Fetal Growth Retardation - genetics Fucose - metabolism Fucose - therapeutic use Genetic Heterogeneity Genetic Predisposition to Disease Glycoproteins - biosynthesis Glycosylation Golgi Apparatus - metabolism Guanosine Diphosphate Fucose - metabolism Humans Infection - etiology Intellectual Disability - genetics Invertebrates Lectins - toxicity Leukocyte-Adhesion Deficiency Syndrome - classification Leukocyte-Adhesion Deficiency Syndrome - drug therapy Leukocyte-Adhesion Deficiency Syndrome - genetics Leukocyte-Adhesion Deficiency Syndrome - metabolism Male Mammals Monosaccharide Transport Proteins Nucleoside Diphosphate Sugars - metabolism Phenotype Point Mutation Protein Processing, Post-Translational - genetics Recurrence Selection, Genetic Spotlight Turkey |
title | Golgi nucleotide sugar transport and leukocyte adhesion deficiency II |
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