{"id":"https://openalex.org/W3190601034","doi":"https://doi.org/10.1002/jimd.12422","title":"Clinical presentation and natural history of Barth Syndrome: An overview","display_name":"Clinical presentation and natural history of Barth Syndrome: An overview","publication_year":2021,"publication_date":"2021-08-06","ids":{"openalex":"https://openalex.org/W3190601034","doi":"https://doi.org/10.1002/jimd.12422","mag":"3190601034","pmid":"https://pubmed.ncbi.nlm.nih.gov/34355402"},"language":"en","primary_location":{"id":"doi:10.1002/jimd.12422","doi":"https://doi.org/10.1002/jimd.12422","is_oa":false,"landing_page_url":"https://doi.org/10.1002/jimd.12422","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},"volume":null,"type":"review","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5081734704","display_name":"Carolyn L. Taylor","orcid":"https://orcid.org/0000-0003-2583-3124","observed_orcids":["https://orcid.org/0000-0003-2583-3124"]},"institutions":[{"id":"https://openalex.org/I153297377","display_name":"Medical University of South Carolina","ror":"https://ror.org/012jban78","country_code":"US","type":"education","lineage":["https://openalex.org/I153297377"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Carolyn Taylor","raw_affiliation_strings":["Department of Pediatrics, Division of Cardiology, Children's Hospital, Medical University of South Carolina, Charleston, South Carolina, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Cardiology, Children's Hospital, Medical University of South Carolina, Charleston, South Carolina, USA","institution_ids":["https://openalex.org/I153297377"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019793273","display_name":"Emily S. Rao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Emily S. Rao","raw_affiliation_strings":["Department of Pediatrics, Division of Hematology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Division of Hematology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113666498","display_name":"Germaine Pierre","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800789647","display_name":"University Hospitals Bristol NHS Foundation Trust","ror":"https://ror.org/04nm1cv11","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800789647","https://openalex.org/I4392738148","https://openalex.org/I4405276282"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Germaine Pierre","raw_affiliation_strings":["Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK","institution_ids":["https://openalex.org/I2800789647"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049100948","display_name":"Estathia Chronopoulou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800789647","display_name":"University Hospitals Bristol NHS Foundation Trust","ror":"https://ror.org/04nm1cv11","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800789647","https://openalex.org/I4392738148","https://openalex.org/I4405276282"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Estathia Chronopoulou","raw_affiliation_strings":["Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Inherited Metabolic Disease, Division of Women's and Children's Services, University Hospitals Bristol NHS Foundation Trust, Bristol, UK","institution_ids":["https://openalex.org/I2800789647"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088706829","display_name":"Brittany Hornby","orcid":"https://orcid.org/0000-0003-2247-9254","observed_orcids":["https://orcid.org/0000-0003-2247-9254"]},"institutions":[{"id":"https://openalex.org/I1298154867","display_name":"Kennedy Krieger Institute","ror":"https://ror.org/05q6tgt32","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1298154867"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Brittany Hornby","raw_affiliation_strings":["Department of Physical Therapy, Kennedy Krieger Institute, Baltimore, Maryland, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physical Therapy, Kennedy Krieger Institute, Baltimore, Maryland, USA","institution_ids":["https://openalex.org/I1298154867"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5022856136","display_name":"Andrea Heyman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1298154867","display_name":"Kennedy Krieger Institute","ror":"https://ror.org/05q6tgt32","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1298154867"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Andrea Heyman","raw_affiliation_strings":["Department of Nutrition, Kennedy Krieger Institute, Baltimore, Maryland, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Nutrition, Kennedy Krieger Institute, Baltimore, Maryland, USA","institution_ids":["https://openalex.org/I1298154867"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5057450889","display_name":"Hilary J. Vernon","orcid":"https://orcid.org/0000-0001-9940-9866","observed_orcids":["https://orcid.org/0000-0001-9940-9866"]},"institutions":[{"id":"https://openalex.org/I145311948","display_name":"Johns Hopkins University","ror":"https://ror.org/00za53h95","country_code":"US","type":"education","lineage":["https://openalex.org/I145311948"]},{"id":"https://openalex.org/I2799853436","display_name":"Johns Hopkins Medicine","ror":"https://ror.org/037zgn354","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2799853436"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Hilary J. Vernon","raw_affiliation_strings":["Department of Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA"],"raw_orcid":"https://orcid.org/0000-0001-9940-9866","affiliations":[{"raw_affiliation_string":"Department of Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA","institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5057450889"],"corresponding_institution_ids":["https://openalex.org/I145311948","https://openalex.org/I2799853436"],"apc_list":{"value":3000,"currency":"USD","value_usd":3000},"apc_paid":null,"fwci":1.1064,"has_fulltext":false,"cited_by_count":68,"citation_normalized_percentile":{"value":0.74744027,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":100},"biblio":{"volume":"45","issue":"1","first_page":"7","last_page":"16"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9077000021934509,"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"}},"topics":[{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9077000021934509,"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"}},{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.07509999722242355,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T10882","display_name":"Cardiomyopathy and Myosin Studies","score":0.003100000089034438,"subfield":{"id":"https://openalex.org/subfields/2705","display_name":"Cardiology and Cardiovascular Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/barth-syndrome","display_name":"Barth syndrome","score":0.9860000014305115},{"id":"https://openalex.org/keywords/taz1","display_name":"Taz1","score":0.578000009059906},{"id":"https://openalex.org/keywords/cardiolipin-remodeling","display_name":"cardiolipin remodeling","score":0.9409999847412109},{"id":"https://openalex.org/keywords/x-linked-disorders","display_name":"X-linked disorders","score":0.781000018119812},{"id":"https://openalex.org/keywords/cardiomyopathy","display_name":"cardiomyopathy","score":0.9649999737739563},{"id":"https://openalex.org/keywords/skeletal-myopathy","display_name":"skeletal myopathy","score":0.9950000047683716},{"id":"https://openalex.org/keywords/neutropenia","display_name":"neutropenia","score":0.9869999885559082},{"id":"https://openalex.org/keywords/growth-abnormalities","display_name":"abnormal growth","score":0.9300000071525574},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.8759999871253967},{"id":"https://openalex.org/keywords/clinical-characteristics","display_name":"clinical features","score":0.8899999856948853},{"id":"https://openalex.org/keywords/clinical-management","display_name":"clinical management","score":0.35100001096725464}],"concepts":[{"id":"https://openalex.org/C163276114","wikidata":"https://www.wikidata.org/wiki/Q484591","display_name":"Natural history","level":2,"score":0.8186545372009277},{"id":"https://openalex.org/C2781302388","wikidata":"https://www.wikidata.org/wiki/Q183453","display_name":"Cardiolipin","level":4,"score":0.5982252955436707},{"id":"https://openalex.org/C2777601897","wikidata":"https://www.wikidata.org/wiki/Q3409113","display_name":"Presentation (obstetrics)","level":2,"score":0.5519102811813354},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.54578697681427},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.48976778984069824},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.42716264724731445},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.38234975934028625},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3162599802017212},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.27980464696884155},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.24792572855949402},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.20929491519927979},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.09423771500587463},{"id":"https://openalex.org/C2778918659","wikidata":"https://www.wikidata.org/wiki/Q186915","display_name":"Phospholipid","level":3,"score":0.08084431290626526},{"id":"https://openalex.org/C41625074","wikidata":"https://www.wikidata.org/wiki/Q176088","display_name":"Membrane","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000217","descriptor_name":"Acyltransferases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002308","descriptor_name":"Cardiolipins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009503","descriptor_name":"Neutropenia","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D051336","descriptor_name":"Mitochondrial Membranes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D056889","descriptor_name":"Barth Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D056889","descriptor_name":"Barth Syndrome","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D056889","descriptor_name":"Barth Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D056889","descriptor_name":"Barth Syndrome","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/jimd.12422","doi":"https://doi.org/10.1002/jimd.12422","is_oa":false,"landing_page_url":"https://doi.org/10.1002/jimd.12422","pdf_url":null,"source":{"id":"https://openalex.org/S186577254","display_name":"Journal of Inherited Metabolic Disease","issn_l":"0141-8955","issn":["0141-8955","1573-2665"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-c","doyens","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Inherited Metabolic Disease","raw_type":"journal-article"},{"id":"pmid:34355402","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/34355402","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":"Journal of inherited metabolic disease","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":78,"referenced_works":["https://openalex.org/W849545257","https://openalex.org/W1494952166","https://openalex.org/W1913881380","https://openalex.org/W1947291415","https://openalex.org/W1967824509","https://openalex.org/W1968134726","https://openalex.org/W1974145389","https://openalex.org/W1975703358","https://openalex.org/W1983663511","https://openalex.org/W1984019957","https://openalex.org/W1997608750","https://openalex.org/W2000147626","https://openalex.org/W2009596928","https://openalex.org/W2016432558","https://openalex.org/W2016624615","https://openalex.org/W2017550994","https://openalex.org/W2023253718","https://openalex.org/W2025702700","https://openalex.org/W2026843724","https://openalex.org/W2029630471","https://openalex.org/W2033072021","https://openalex.org/W2033130282","https://openalex.org/W2042183674","https://openalex.org/W2048002634","https://openalex.org/W2062173781","https://openalex.org/W2064747174","https://openalex.org/W2075284461","https://openalex.org/W2078416451","https://openalex.org/W2081996533","https://openalex.org/W2093769286","https://openalex.org/W2099103099","https://openalex.org/W2099666947","https://openalex.org/W2108055946","https://openalex.org/W2112669041","https://openalex.org/W2116995457","https://openalex.org/W2132145238","https://openalex.org/W2135394011","https://openalex.org/W2142084864","https://openalex.org/W2152034434","https://openalex.org/W2158590609","https://openalex.org/W2166742653","https://openalex.org/W2169956102","https://openalex.org/W2169957088","https://openalex.org/W2171086283","https://openalex.org/W2201440145","https://openalex.org/W2274084935","https://openalex.org/W2334278671","https://openalex.org/W2424939044","https://openalex.org/W2592237856","https://openalex.org/W2606033599","https://openalex.org/W2746659169","https://openalex.org/W2757651286","https://openalex.org/W2773789816","https://openalex.org/W2794091248","https://openalex.org/W2795713408","https://openalex.org/W2797108481","https://openalex.org/W2885702860","https://openalex.org/W2900714311","https://openalex.org/W2912897546","https://openalex.org/W2921760829","https://openalex.org/W2985058845","https://openalex.org/W2988933831","https://openalex.org/W3001912002","https://openalex.org/W3013761765","https://openalex.org/W3028091408","https://openalex.org/W3042658591","https://openalex.org/W3089941351","https://openalex.org/W3093230103","https://openalex.org/W3133026938","https://openalex.org/W3142084331","https://openalex.org/W3168527845","https://openalex.org/W3175758594","https://openalex.org/W3180639479","https://openalex.org/W3190293731","https://openalex.org/W3191728528","https://openalex.org/W6799567237","https://openalex.org/W7073587018","https://openalex.org/W7074152887"],"related_works":["https://openalex.org/W3215315993","https://openalex.org/W2025702700","https://openalex.org/W2023348606","https://openalex.org/W2948344653","https://openalex.org/W2797559957","https://openalex.org/W3119059949","https://openalex.org/W3209731496","https://openalex.org/W2004550803","https://openalex.org/W7140471595","https://openalex.org/W4404292375"],"abstract_inverted_index":{"Barth":[0,35,63,85],"Syndrome":[1,36,86],"is":[2,37],"a":[3,26],"rare":[4],"X-linked":[5],"disorder":[6],"caused":[7],"by":[8,39],"pathogenic":[9],"variants":[10],"in":[11,21],"the":[12,22,31,56,81,97],"gene":[13],"TAFAZZIN,":[14],"which":[15],"encodes":[16],"for":[17,89,96],"an":[18],"enzyme":[19],"involved":[20],"remodeling":[23],"of":[24,62,68,80,84,99,101],"cardiolipin,":[25],"phospholipid":[27],"primarily":[28],"localized":[29],"to":[30],"inner":[32],"mitochondrial":[33],"membrane.":[34],"characterized":[38],"cardiomyopathy,":[40],"skeletal":[41],"myopathy,":[42],"neutropenia,":[43],"and":[44,59,71,78,93,103],"growth":[45],"abnormalities,":[46],"among":[47],"other":[48],"features.":[49],"In":[50],"this":[51,69],"review,":[52],"we":[53],"will":[54],"discuss":[55],"clinical":[57,75],"presentation":[58],"natural":[60,82],"history":[61,83],"Syndrome,":[64],"review":[65],"key":[66],"features":[67],"disease,":[70],"introduce":[72],"less":[73],"common":[74],"associations.":[76],"Recognition":[77],"understanding":[79],"are":[87],"important":[88],"ongoing":[90],"patient":[91],"management":[92],"developing":[94],"endpoints":[95],"demonstration":[98],"efficacy":[100],"new":[102],"emerging":[104],"therapies.":[105]},"counts_by_year":[{"year":2026,"cited_by_count":11},{"year":2025,"cited_by_count":23},{"year":2024,"cited_by_count":13},{"year":2023,"cited_by_count":12},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2021-08-16T00:00:00"}
