{"id":"https://openalex.org/W2054019381","doi":"https://doi.org/10.1007/s10741-012-9302-6","title":"From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)","display_name":"From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)","publication_year":2012,"publication_date":"2012-02-10","ids":{"openalex":"https://openalex.org/W2054019381","doi":"https://doi.org/10.1007/s10741-012-9302-6","mag":"2054019381","pmid":"https://pubmed.ncbi.nlm.nih.gov/22327749","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3593007"},"language":"en","primary_location":{"id":"doi:10.1007/s10741-012-9302-6","doi":"https://doi.org/10.1007/s10741-012-9302-6","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s10741-012-9302-6","pdf_url":"https://link.springer.com/content/pdf/10.1007/s10741-012-9302-6.pdf","source":{"id":"https://openalex.org/S82077098","display_name":"Heart Failure Reviews","issn_l":"1382-4147","issn":["1382-4147","1573-7322"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Heart Failure Reviews","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://link.springer.com/content/pdf/10.1007/s10741-012-9302-6.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5049001097","display_name":"Livia Kapusta","orcid":"https://orcid.org/0000-0001-9794-8161","observed_orcids":["https://orcid.org/0000-0001-9794-8161"]},"institutions":[{"id":"https://openalex.org/I2800717019","display_name":"Wolfson Medical Center","ror":"https://ror.org/04ayype77","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800717019"]},{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]}],"countries":["IL","NL"],"is_corresponding":true,"raw_author_name":"Livia Kapusta","raw_affiliation_strings":["Children's Heart Centre, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. l.kapusta@cukz.umcn.nl","Edith Wolfson Medical Center","Radboud University Nijmegen Medical Centre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Heart Centre, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. l.kapusta@cukz.umcn.nl","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Edith Wolfson Medical Center","institution_ids":["https://openalex.org/I2800717019"]},{"raw_affiliation_string":"Radboud University Nijmegen Medical Centre","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110134582","display_name":"Nili Zucker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210109312","display_name":"Schneider Children's Medical Center","ror":"https://ror.org/01z3j3n30","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210109312"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Nili Zucker","raw_affiliation_strings":["Heart Institute, Schneider Children\u2019s Medical Centre of Israel, Petach Tikva, Israel","Schneider Children\u2019s Medical Centre of Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Heart Institute, Schneider Children\u2019s Medical Centre of Israel, Petach Tikva, Israel","institution_ids":["https://openalex.org/I4210109312"]},{"raw_affiliation_string":"Schneider Children\u2019s Medical Centre of Israel","institution_ids":["https://openalex.org/I4210109312"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112171397","display_name":"George Frenkel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210109312","display_name":"Schneider Children's Medical Center","ror":"https://ror.org/01z3j3n30","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210109312"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"George Frenckel","raw_affiliation_strings":["Pediatric Cardiothoracic Surgery, Schneider Children\u2019s Medical Centre of Israel, Petach Tikva, Israel","Schneider Children\u2019s Medical Centre of Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Cardiothoracic Surgery, Schneider Children\u2019s Medical Centre of Israel, Petach Tikva, Israel","institution_ids":["https://openalex.org/I4210109312"]},{"raw_affiliation_string":"Schneider Children\u2019s Medical Centre of Israel","institution_ids":["https://openalex.org/I4210109312"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027689416","display_name":"Benjamin Medalion","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800389475","display_name":"Rabin Medical Center","ror":"https://ror.org/01vjtf564","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800389475","https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Benjamin Medalion","raw_affiliation_strings":["Department of Cardiothoracic Surgery, Rabin Medical Centre, Petach Tikva, Israel","Rabin Medical Centre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiothoracic Surgery, Rabin Medical Centre, Petach Tikva, Israel","institution_ids":["https://openalex.org/I2800389475"]},{"raw_affiliation_string":"Rabin Medical Centre","institution_ids":["https://openalex.org/I2800389475"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104264821","display_name":"Tuvia Ben Gal","orcid":"https://orcid.org/0000-0001-6941-1738","observed_orcids":["https://orcid.org/0000-0001-6941-1738"]},"institutions":[{"id":"https://openalex.org/I2800389475","display_name":"Rabin Medical Center","ror":"https://ror.org/01vjtf564","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800389475","https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Tuvia Ben Gal","raw_affiliation_strings":["Department of Cardiology, Rabin Medical Centre, Petach Tikva, Israel","Rabin Medical Centre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiology, Rabin Medical Centre, Petach Tikva, Israel","institution_ids":["https://openalex.org/I2800389475"]},{"raw_affiliation_string":"Rabin Medical Centre","institution_ids":["https://openalex.org/I2800389475"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111757436","display_name":"Einat Birk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210109312","display_name":"Schneider Children's Medical Center","ror":"https://ror.org/01z3j3n30","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210109312"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Einat Birk","raw_affiliation_strings":["Heart Institute, Schneider Children\u2019s Medical Centre of Israel, Petach Tikva, Israel","Schneider Children\u2019s Medical Centre of Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Heart Institute, Schneider Children\u2019s Medical Centre of Israel, Petach Tikva, Israel","institution_ids":["https://openalex.org/I4210109312"]},{"raw_affiliation_string":"Schneider Children\u2019s Medical Centre of Israel","institution_ids":["https://openalex.org/I4210109312"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102999526","display_name":"Hanna Mandel","orcid":"https://orcid.org/0000-0002-5230-4247","observed_orcids":["https://orcid.org/0000-0002-5230-4247"]},"institutions":[{"id":"https://openalex.org/I2801301638","display_name":"Rambam Health Care Campus","ror":"https://ror.org/01fm87m50","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801301638"]},{"id":"https://openalex.org/I4210104152","display_name":"Meyer Children's Hospital","ror":"https://ror.org/01pxg9d10","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I4210104152"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Hanna Mandel","raw_affiliation_strings":["Metabolic Unit, Meyer Children\u2019s Hospital, Rambam Medical Center, Haifa, Israel","Meyer Children's Hospital, Rambam Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Metabolic Unit, Meyer Children\u2019s Hospital, Rambam Medical Center, Haifa, Israel","institution_ids":["https://openalex.org/I2801301638","https://openalex.org/I4210104152"]},{"raw_affiliation_string":"Meyer Children's Hospital, Rambam Medical Center","institution_ids":["https://openalex.org/I4210104152"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047650928","display_name":"Nadim Nasser","orcid":"https://orcid.org/0000-0003-2249-8543","observed_orcids":["https://orcid.org/0000-0003-2249-8543","https://orcid.org/0000-0001-5917-170X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Nadim Nasser","raw_affiliation_strings":["Family Physician, High Gallilee-Acre, Israel","Family Physician"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Family Physician, High Gallilee-Acre, Israel","institution_ids":[]},{"raw_affiliation_string":"Family Physician","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114245994","display_name":"Sarah Morgenstern","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800389475","display_name":"Rabin Medical Center","ror":"https://ror.org/01vjtf564","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2800389475","https://openalex.org/I64767286"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Sarah Morgenstern","raw_affiliation_strings":["Department of Pathology, Rabin Medical Center, Petach Tikva, Israel","Rabin Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Rabin Medical Center, Petach Tikva, Israel","institution_ids":["https://openalex.org/I2800389475"]},{"raw_affiliation_string":"Rabin Medical Center","institution_ids":["https://openalex.org/I2800389475"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033263383","display_name":"Andreas Oliver Zuckermann","orcid":"https://orcid.org/0000-0002-8054-8150","observed_orcids":["https://orcid.org/0000-0002-8054-8150"]},"institutions":[{"id":"https://openalex.org/I129774422","display_name":"University of Vienna","ror":"https://ror.org/03prydq77","country_code":"AT","type":"education","lineage":["https://openalex.org/I129774422"]}],"countries":["AT"],"is_corresponding":false,"raw_author_name":"Andreas Zuckermann","raw_affiliation_strings":["Department of Cardiothoracic Surgery, University of Vienna, Vienna, Austria","Univ. of Vienna#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cardiothoracic Surgery, University of Vienna, Vienna, Austria","institution_ids":["https://openalex.org/I129774422"]},{"raw_affiliation_string":"Univ. of Vienna#TAB#","institution_ids":["https://openalex.org/I129774422"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103113661","display_name":"Dirk J. Lefeber","orcid":"https://orcid.org/0000-0001-7770-8398","observed_orcids":["https://orcid.org/0000-0001-7770-8398","https://orcid.org/0000-0003-4442-4473"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Dirk J. Lefeber","raw_affiliation_strings":["Institute of Genetic Metabolic and Endocrine Diseases, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Institute of Genetic Metabolic and Endocrine Diseases, Laboratory of Genetic, Endocrine and Metabolic Diseases, Department Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Radboud University Nijmegen Medical Centre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetic Metabolic and Endocrine Diseases, Department of Neurology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Institute of Genetic Metabolic and Endocrine Diseases, Laboratory of Genetic, Endocrine and Metabolic Diseases, Department Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Radboud University Nijmegen Medical Centre","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090091574","display_name":"Arjen de Brouwer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Arjen de Brouwer","raw_affiliation_strings":["Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Radboud University Nijmegen Medical Centre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Radboud University Nijmegen Medical Centre","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5045187784","display_name":"Ron A. Wevers","orcid":"https://orcid.org/0000-0003-2278-9746","observed_orcids":["https://orcid.org/0000-0003-2278-9746"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Ron A. Wevers","raw_affiliation_strings":["Institute of Genetic Metabolic and Endocrine Diseases, Laboratory of Genetic, Endocrine and Metabolic Diseases, Department Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Radboud University Nijmegen Medical Centre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetic Metabolic and Endocrine Diseases, Laboratory of Genetic, Endocrine and Metabolic Diseases, Department Laboratory Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Radboud University Nijmegen Medical Centre","institution_ids":["https://openalex.org/I2802934949"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041818873","display_name":"Avraham Lorber","orcid":"https://orcid.org/0009-0004-9184-669X","observed_orcids":["https://orcid.org/0009-0004-9184-669X"]},"institutions":[{"id":"https://openalex.org/I2801301638","display_name":"Rambam Health Care Campus","ror":"https://ror.org/01fm87m50","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2801301638"]}],"countries":["IL"],"is_corresponding":false,"raw_author_name":"Avraham Lorber","raw_affiliation_strings":["Pediatric Cardiology and Adults with Congenital Heart Disease, Rambam Medical Center, Haifa, Israel","Rambam Medical Center"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Cardiology and Adults with Congenital Heart Disease, Rambam Medical Center, Haifa, Israel","institution_ids":["https://openalex.org/I2801301638"]},{"raw_affiliation_string":"Rambam Medical Center","institution_ids":["https://openalex.org/I2801301638"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5076640163","display_name":"\u00c9va Morava","orcid":"https://orcid.org/0000-0001-7441-700X","observed_orcids":["https://orcid.org/0000-0001-7441-700X"]},"institutions":[{"id":"https://openalex.org/I2802934949","display_name":"Radboud University Medical Center","ror":"https://ror.org/05wg1m734","country_code":"NL","type":"healthcare","lineage":["https://openalex.org/I2802934949"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Eva Morava","raw_affiliation_strings":["Institute of Genetic Metabolic and Endocrine Diseases, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","Radboud University Nijmegen Medical Centre"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institute of Genetic Metabolic and Endocrine Diseases, Department of Pediatrics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I2802934949"]},{"raw_affiliation_string":"Radboud University Nijmegen Medical Centre","institution_ids":["https://openalex.org/I2802934949"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5049001097"],"corresponding_institution_ids":["https://openalex.org/I2800717019","https://openalex.org/I2802934949"],"apc_list":{"value":3090,"currency":"USD","value_usd":3090},"apc_paid":{"value":3090,"currency":"USD","value_usd":3090},"fwci":1.7761,"has_fulltext":true,"cited_by_count":44,"citation_normalized_percentile":{"value":0.82373704,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"18","issue":"2","first_page":"187","last_page":"196"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.3693999946117401,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.3693999946117401,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.1858000010251999,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.16099999845027924,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-disorders-of-glycosylation","display_name":"congenital disorders of glycosylation","score":0.9480000138282776},{"id":"https://openalex.org/keywords/dilated-cardiomyopathy","display_name":"dilated cardiomyopathy","score":0.9470000267028809},{"id":"https://openalex.org/keywords/heart-transplantation","display_name":"heart transplantation","score":0.9390000104904175},{"id":"https://openalex.org/keywords/heart-failure","display_name":"heart failure","score":0.6800000071525574},{"id":"https://openalex.org/keywords/pmm2-cdg","display_name":"PMM2-CDG","score":0.8450000286102295},{"id":"https://openalex.org/keywords/cardiac-phenotype","display_name":"cardiac phenotype","score":0.5210000276565552},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.39899998903274536}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9154359698295593},{"id":"https://openalex.org/C2776383484","wikidata":"https://www.wikidata.org/wiki/Q283656","display_name":"Dilated cardiomyopathy","level":3,"score":0.8832280039787292},{"id":"https://openalex.org/C2778797674","wikidata":"https://www.wikidata.org/wiki/Q847583","display_name":"Cardiomyopathy","level":3,"score":0.7210881114006042},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.6819084286689758},{"id":"https://openalex.org/C2911091166","wikidata":"https://www.wikidata.org/wiki/Q106419912","display_name":"Transplantation","level":2,"score":0.6778762340545654},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.5199783444404602},{"id":"https://openalex.org/C2778849806","wikidata":"https://www.wikidata.org/wiki/Q643396","display_name":"Heart transplantation","level":3,"score":0.514930784702301},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4789731502532959}],"mesh":[{"descriptor_ui":"D002311","descriptor_name":"Cardiomyopathy, Dilated","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002311","descriptor_name":"Cardiomyopathy, Dilated","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006031","descriptor_name":"Glycosylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006333","descriptor_name":"Heart Failure","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":true},{"descriptor_ui":"D006333","descriptor_name":"Heart Failure","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016027","descriptor_name":"Heart Transplantation","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D016896","descriptor_name":"Treatment Outcome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017853","descriptor_name":"Phosphotransferases (Alcohol Group Acceptor)","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":false},{"descriptor_ui":"D017853","descriptor_name":"Phosphotransferases (Alcohol Group Acceptor)","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018981","descriptor_name":"Congenital Disorders of Glycosylation","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D018981","descriptor_name":"Congenital Disorders of Glycosylation","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":true}],"locations_count":9,"locations":[{"id":"doi:10.1007/s10741-012-9302-6","doi":"https://doi.org/10.1007/s10741-012-9302-6","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s10741-012-9302-6","pdf_url":"https://link.springer.com/content/pdf/10.1007/s10741-012-9302-6.pdf","source":{"id":"https://openalex.org/S82077098","display_name":"Heart Failure Reviews","issn_l":"1382-4147","issn":["1382-4147","1573-7322"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Heart Failure Reviews","raw_type":"journal-article"},{"id":"pmh:oai:europepmc.org:2593027","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3593007","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:22327749","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22327749","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Heart failure reviews","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:3593007","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC3593007/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Heart Fail Rev","raw_type":"Text"},{"id":"pmh:oai:lirias2repo.kuleuven.be:123456789/544361","doi":null,"is_oa":true,"landing_page_url":"https://lirias.kuleuven.be/handle/123456789/544361","pdf_url":"https://lirias.kuleuven.be/retrieve/8e6030a8-35d9-4a92-8fb7-321813acce65","source":{"id":"https://openalex.org/S4306401954","display_name":"Lirias (KU Leuven)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I99464096","host_organization_name":"KU Leuven","host_organization_lineage":["https://openalex.org/I99464096"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Heart Failure Reviews, vol. 18 (2), (187-196)","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.816.9309","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.816.9309","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/10/1c/10741_2012_Article_9302.PMC3593007.pdf","raw_type":"text"},{"id":"pmh:oai:repository.ubn.ru.nl:2066/118450","doi":null,"is_oa":false,"landing_page_url":"https://hdl.handle.net/2066/118450","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"","raw_type":"Article / Letter to editor"},{"id":"pmh:ru:oai:repository.ubn.ru.nl:2066/118450","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/2066/118450","pdf_url":null,"source":{"id":"https://openalex.org/S4306401067","display_name":"Radboud Repository (Radboud University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I145872427","host_organization_name":"Radboud University Nijmegen","host_organization_lineage":["https://openalex.org/I145872427"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Heart Failure Reviews, 18, 187 - 96","raw_type":"info:eu-repo/semantics/article"},{"id":"mag:2346057972","doi":null,"is_oa":false,"landing_page_url":"https://link.springer.com/content/pdf/10.1007/s10741-012-9302-6.pdf","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":{"id":"doi:10.1007/s10741-012-9302-6","doi":"https://doi.org/10.1007/s10741-012-9302-6","is_oa":true,"landing_page_url":"https://doi.org/10.1007/s10741-012-9302-6","pdf_url":"https://link.springer.com/content/pdf/10.1007/s10741-012-9302-6.pdf","source":{"id":"https://openalex.org/S82077098","display_name":"Heart Failure Reviews","issn_l":"1382-4147","issn":["1382-4147","1573-7322"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Heart Failure Reviews","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9907000064849854}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320316303","display_name":"Stichting Metakids","ror":"https://ror.org/028jnma48"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2054019381.pdf","grobid_xml":"https://content.openalex.org/works/W2054019381.grobid-xml"},"referenced_works_count":28,"referenced_works":["https://openalex.org/W1967494319","https://openalex.org/W1969098089","https://openalex.org/W1976828181","https://openalex.org/W1977936269","https://openalex.org/W2000655632","https://openalex.org/W2003634873","https://openalex.org/W2005586902","https://openalex.org/W2014733533","https://openalex.org/W2020339075","https://openalex.org/W2033401038","https://openalex.org/W2038957929","https://openalex.org/W2052957365","https://openalex.org/W2059679880","https://openalex.org/W2062423282","https://openalex.org/W2064550080","https://openalex.org/W2069254324","https://openalex.org/W2076879679","https://openalex.org/W2078515800","https://openalex.org/W2082785129","https://openalex.org/W2089173960","https://openalex.org/W2095142584","https://openalex.org/W2107259873","https://openalex.org/W2119930943","https://openalex.org/W2122543707","https://openalex.org/W2126181351","https://openalex.org/W2136307788","https://openalex.org/W2140903835","https://openalex.org/W2170128118"],"related_works":["https://openalex.org/W2346057972","https://openalex.org/W2038957929","https://openalex.org/W4392501403","https://openalex.org/W2130779718","https://openalex.org/W4318070678","https://openalex.org/W1933558125","https://openalex.org/W2745597233","https://openalex.org/W2031726203","https://openalex.org/W4393392383","https://openalex.org/W7130650774"],"abstract_inverted_index":{"Congenital":[0],"disorders":[1],"of":[2,8,11,91,97,116,122,225],"glycosylation":[3],"are":[4,143,159],"a":[5,36,42],"growing":[6],"group":[7],"inborn":[9],"errors":[10],"protein":[12],"glycosylation.":[13],"Cardiac":[14],"involvement":[15],"is":[16,185,217],"frequently":[17],"observed":[18,34],"in":[19,35,50,187,196,233],"the":[20,95,114,117,170,174,218,223,228],"most":[21,168],"common":[22],"form,":[23],"PMM2-CDG,":[24],"especially":[25],"hypertrophic":[26],"cardiomyopathy.":[27,200],"Dilated":[28],"cardiomyopathy,":[29],"however,":[30],"has":[31],"been":[32],"only":[33],"few":[37],"CDG":[38,188,234],"subtypes,":[39],"usually":[40],"with":[41,59,82,88,109,155,198,202],"lethal":[43],"outcome.":[44],"We":[45,190],"report":[46],"on":[47,162,208,222],"cardiac":[48,71,171],"pathology":[49],"nine":[51],"patients":[52,197],"from":[53,74],"three":[54],"unrelated":[55],"Israeli":[56],"families,":[57],"diagnosed":[58,154],"dolichol":[60],"kinase":[61],"deficiency,":[62],"due":[63],"to":[64,78,192],"novel,":[65],"homozygous":[66],"DK1":[67],"gene":[68],"mutations.":[69],"The":[70,150],"symptoms":[72,90],"varied":[73],"discrete,":[75],"mild":[76,110,156],"dilation":[77],"overt":[79],"heart":[80,92,100,135,164],"failure":[81,93,165],"death.":[83],"Two":[84],"children":[85,108,153],"died":[86,138],"unexpectedly":[87,139],"acute":[89,128],"before":[94],"diagnosis":[96,118],"DK1-CDG":[98,195,226],"and":[99,140,227],"transplantation":[101,232],"could":[102],"take":[103],"place.":[104],"Three":[105],"other":[106,151],"affected":[107],"dilated":[111,157,199],"cardiomyopathy":[112,158,204],"at":[113],"time":[115],"deteriorated":[119],"rapidly,":[120],"two":[121],"them":[123],"within":[124],"days":[125],"after":[126],"an":[127],"infection.":[129],"They":[130],"all":[131],"went":[132],"through":[133],"successful":[134,230],"transplantation;":[136],"one":[137],"2":[141],"others":[142,212],"currently":[144],"(after":[145],"1-5":[146],"years)":[147],"clinically":[148],"stable.":[149],"4":[152],"doing":[160],"well":[161],"supportive":[163,209],"therapy.":[166],"In":[167],"cases,":[169],"findings":[172],"dominated":[173],"clinical":[175],"picture,":[176],"without":[177],"central":[178],"nervous":[179],"system":[180],"or":[181],"multisystem":[182],"involvement,":[183],"which":[184],"unique":[186],"syndrome.":[189,235],"suggest":[191],"test":[193],"for":[194],"Patients":[201],"discrete":[203],"may":[205],"remain":[206],"stable":[207],"treatment":[210],"while":[211],"deteriorate":[213],"rapidly.":[214],"Our":[215],"paper":[216],"first":[219,229],"comprehensive":[220],"study":[221],"phenotype":[224],"organ":[231]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":3},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":5},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}
