{"id":"https://openalex.org/W4399558201","doi":"https://doi.org/10.1016/j.pediatrneurol.2024.05.022","title":"A Clinical Neurological Approach to the Child With Adenosine Deaminase Deficiency","display_name":"A Clinical Neurological Approach to the Child With Adenosine Deaminase Deficiency","publication_year":2024,"publication_date":"2024-06-12","ids":{"openalex":"https://openalex.org/W4399558201","doi":"https://doi.org/10.1016/j.pediatrneurol.2024.05.022","pmid":"https://pubmed.ncbi.nlm.nih.gov/38959649"},"language":"en","primary_location":{"id":"doi:10.1016/j.pediatrneurol.2024.05.022","doi":"https://doi.org/10.1016/j.pediatrneurol.2024.05.022","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.pediatrneurol.2024.05.022","pdf_url":null,"source":{"id":"https://openalex.org/S165686931","display_name":"Pediatric Neurology","issn_l":"0887-8994","issn":["0887-8994","1873-5150"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Neurology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5093553904","display_name":"Paula Ivarola","orcid":"https://orcid.org/0009-0007-1661-1542","observed_orcids":["https://orcid.org/0009-0007-1661-1542"]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":true,"raw_author_name":"Paula Ivarola","raw_affiliation_strings":["Department of Neurology, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. Electronic address: dra.paulaivarola@gmail.com"],"raw_orcid":"https://orcid.org/0009-0007-1661-1542","affiliations":[{"raw_affiliation_string":"Department of Neurology, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. Electronic address: dra.paulaivarola@gmail.com","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009922579","display_name":"Luciano Urdinez","orcid":"https://orcid.org/0000-0001-8466-2957","observed_orcids":["https://orcid.org/0000-0001-8466-2957"]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Luciano Urdinez","raw_affiliation_strings":["Department of Immunology and Rheumatology, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology and Rheumatology, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019430815","display_name":"Mat\u00edas Oleastro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Matias Oleastro","raw_affiliation_strings":["Department of Immunology and Rheumatology, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Immunology and Rheumatology, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5099098107","display_name":"Danila Labonia","orcid":"https://orcid.org/0009-0003-9850-9576","observed_orcids":["https://orcid.org/0009-0003-9850-9576"]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Danila Labonia","raw_affiliation_strings":["Unit of Bone Marrow Transplantation, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Bone Marrow Transplantation, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5146718366","display_name":"Mariana Roizen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Mariana Roizen","raw_affiliation_strings":["Unit of Bone Marrow Transplantation, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit of Bone Marrow Transplantation, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042298802","display_name":"Roberto Horacio Caraballo","orcid":"https://orcid.org/0000-0003-0259-1046","observed_orcids":["https://orcid.org/0000-0003-0259-1046","https://orcid.org/0000-0001-7372-7743"]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Roberto Caraballo","raw_affiliation_strings":["Department of Neurology, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5112069258","display_name":"Silvia Tenembaum","orcid":"https://orcid.org/0000-0001-6544-4356","observed_orcids":["https://orcid.org/0000-0001-6544-4356"]},"institutions":[{"id":"https://openalex.org/I2799873577","display_name":"Garrahan Hospital","ror":"https://ror.org/051mda743","country_code":"AR","type":"healthcare","lineage":["https://openalex.org/I2799873577"]}],"countries":["AR"],"is_corresponding":false,"raw_author_name":"Silvia Tenembaum","raw_affiliation_strings":["Department of Neurology, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina"],"raw_orcid":"https://orcid.org/0000-0001-6544-4356","affiliations":[{"raw_affiliation_string":"Department of Neurology, Hospital Nacional de Pediatr\u00eda Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina","institution_ids":["https://openalex.org/I2799873577"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5093553904"],"corresponding_institution_ids":["https://openalex.org/I2799873577"],"apc_list":{"value":3100,"currency":"USD","value_usd":3100},"apc_paid":null,"fwci":0.2919,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.45055824,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":95},"biblio":{"volume":"158","issue":null,"first_page":"49","last_page":"56"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.7738999724388123,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.7738999724388123,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":0.18870000541210175,"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.01080000028014183,"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/adenosine-deaminase-deficiency","display_name":"adenosine deaminase deficiency","score":0.9980000257492065},{"id":"https://openalex.org/keywords/severe-combined-immunodeficiency","display_name":"severe combined immunodeficiency","score":0.9980000257492065},{"id":"https://openalex.org/keywords/neurological-complications","display_name":"neurological complications","score":0.8529999852180481},{"id":"https://openalex.org/keywords/neurodevelopmental-delay","display_name":"neurodevelopmental delay","score":0.8799999952316284},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.9700000286102295},{"id":"https://openalex.org/keywords/sensorineural-hearing-loss","display_name":"sensorineural hearing loss","score":0.9639999866485596},{"id":"https://openalex.org/keywords/epilepsy","display_name":"epilepsy","score":0.628000020980835},{"id":"https://openalex.org/keywords/brain-calcification","display_name":"cerebral calcification","score":0.8960000276565552},{"id":"https://openalex.org/keywords/hematopoietic-stem-cell-transplantation","display_name":"hematopoietic stem cell transplantation","score":0.8690000176429749}],"concepts":[{"id":"https://openalex.org/C2781161190","wikidata":"https://www.wikidata.org/wiki/Q1055374","display_name":"Adenosine deaminase deficiency","level":4,"score":0.8693755865097046},{"id":"https://openalex.org/C34628245","wikidata":"https://www.wikidata.org/wiki/Q356093","display_name":"Adenosine deaminase","level":3,"score":0.8329861164093018},{"id":"https://openalex.org/C165912504","wikidata":"https://www.wikidata.org/wiki/Q4652703","display_name":"AMP deaminase","level":4,"score":0.5977461338043213},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5063749551773071},{"id":"https://openalex.org/C2776991684","wikidata":"https://www.wikidata.org/wiki/Q190012","display_name":"Adenosine","level":2,"score":0.5006248950958252},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4211769998073578},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.32920849323272705}],"mesh":[{"descriptor_ui":"D000243","descriptor_name":"Adenosine Deaminase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D000361","descriptor_name":"Agammaglobulinemia","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","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":"D011446","descriptor_name":"Prospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012189","descriptor_name":"Retrospective Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016511","descriptor_name":"Severe Combined Immunodeficiency","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D016511","descriptor_name":"Severe Combined Immunodeficiency","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D016511","descriptor_name":"Severe Combined Immunodeficiency","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.pediatrneurol.2024.05.022","doi":"https://doi.org/10.1016/j.pediatrneurol.2024.05.022","is_oa":false,"landing_page_url":"https://doi.org/10.1016/j.pediatrneurol.2024.05.022","pdf_url":null,"source":{"id":"https://openalex.org/S165686931","display_name":"Pediatric Neurology","issn_l":"0887-8994","issn":["0887-8994","1873-5150"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Neurology","raw_type":"journal-article"},{"id":"pmid:38959649","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/38959649","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":"Pediatric neurology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":1.0}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1988873661","https://openalex.org/W1992938702","https://openalex.org/W2042666727","https://openalex.org/W2051071539","https://openalex.org/W2061473590","https://openalex.org/W2094842387","https://openalex.org/W2107586529","https://openalex.org/W2112331260","https://openalex.org/W2510258949","https://openalex.org/W2578554211","https://openalex.org/W2807045529","https://openalex.org/W2889837594","https://openalex.org/W4310099962"],"related_works":["https://openalex.org/W2107586529","https://openalex.org/W2084205374","https://openalex.org/W81347166","https://openalex.org/W2094842387","https://openalex.org/W2060305521","https://openalex.org/W7163710761","https://openalex.org/W2185966434","https://openalex.org/W2073257205","https://openalex.org/W2443058421","https://openalex.org/W2032726911"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2024-06-13T00:00:00"}
