{"id":"https://openalex.org/W2182545409","doi":"https://doi.org/10.1007/978-1-4684-4553-4_15","title":"Myoadenylate Deaminase Deficiency: An Enzyme Defect in Search of a Disease","display_name":"Myoadenylate Deaminase Deficiency: An Enzyme Defect in Search of a Disease","publication_year":1984,"publication_date":"1984-01-01","ids":{"openalex":"https://openalex.org/W2182545409","doi":"https://doi.org/10.1007/978-1-4684-4553-4_15","mag":"2182545409","pmid":"https://pubmed.ncbi.nlm.nih.gov/6720421"},"language":"en","primary_location":{"id":"doi:10.1007/978-1-4684-4553-4_15","doi":"https://doi.org/10.1007/978-1-4684-4553-4_15","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-1-4684-4553-4_15","pdf_url":null,"source":{"id":"https://openalex.org/S43790123","display_name":"Advances in experimental medicine and biology","issn_l":"0065-2598","issn":["0065-2598","2214-8019"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Advances in Experimental Medicine and Biology","raw_type":"book-chapter"},"volume":{"id":"https://openalex.org/W4247437043","display_name":"Purine Metabolism in Man-IV"},"type":"book-chapter","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/A5111793521","display_name":"E.M.G. Joosten","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"E. Joosten","raw_affiliation_strings":["Dept. Neurology, Radboud Hospital, Catholic University, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Dept. Neurology, Radboud Hospital, Catholic University, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"middle","author":{"id":null,"display_name":"C. van Bennekom","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"C. van Bennekom","raw_affiliation_strings":["Human Genetics, Radboud Hospital, Catholic University, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics, Radboud Hospital, Catholic University, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110409175","display_name":"Frank T. J. J. Oerlemans","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"F. Oerlemans","raw_affiliation_strings":["Human Genetics, Radboud Hospital, Catholic University, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics, Radboud Hospital, Catholic University, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"middle","author":{"id":null,"display_name":"C. De Bruyn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"C. De Bruyn","raw_affiliation_strings":["Human Genetics, Radboud Hospital, Catholic University, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics, Radboud Hospital, Catholic University, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110113495","display_name":"T. Lian Oei","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"T. Oei","raw_affiliation_strings":["Human Genetics, Radboud Hospital, Catholic University, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics, Radboud Hospital, Catholic University, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5003202836","display_name":"J. M. F. Trijbels","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I145872427","display_name":"Radboud University Nijmegen","ror":"https://ror.org/016xsfp80","country_code":"NL","type":"education","lineage":["https://openalex.org/I145872427"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"J. Trijbels","raw_affiliation_strings":["Pediatrics, Radboud Hospital, Catholic University, Nijmegen, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatrics, Radboud Hospital, Catholic University, Nijmegen, The Netherlands","institution_ids":["https://openalex.org/I145872427"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I145872427"],"apc_list":null,"apc_paid":null,"fwci":2.0205,"has_fulltext":false,"cited_by_count":9,"citation_normalized_percentile":{"value":0.87390141,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"165 Pt A","issue":null,"first_page":"85","last_page":"89"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":0.9473000168800354,"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"}},"topics":[{"id":"https://openalex.org/T12827","display_name":"Biochemical and Molecular Research","score":0.9473000168800354,"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":0.027899999171495438,"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.004399999976158142,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/myoadenylate-deaminase-deficiency","display_name":"myoadenylate deaminase deficiency","score":0.9990000128746033},{"id":"https://openalex.org/keywords/enzyme-deficiency","display_name":"enzyme deficiency","score":0.7149999737739563},{"id":"https://openalex.org/keywords/exercise-intolerance","display_name":"exercise intolerance","score":0.8080000281333923},{"id":"https://openalex.org/keywords/muscle-cramps","display_name":"muscle cramps","score":0.7829999923706055},{"id":"https://openalex.org/keywords/connective-tissue-diseases","display_name":"connective tissue diseases","score":0.8320000171661377},{"id":"https://openalex.org/keywords/muscle-weakness","display_name":"muscle weakness","score":0.3089999854564667},{"id":"https://openalex.org/keywords/clinical-heterogeneity","display_name":"clinical heterogeneity","score":0.4339999854564667}],"concepts":[{"id":"https://openalex.org/C2777321227","wikidata":"https://www.wikidata.org/wiki/Q5420062","display_name":"Exercise intolerance","level":3,"score":0.8717691898345947},{"id":"https://openalex.org/C165912504","wikidata":"https://www.wikidata.org/wiki/Q4652703","display_name":"AMP deaminase","level":4,"score":0.6246211528778076},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5978364944458008},{"id":"https://openalex.org/C2992584797","wikidata":"https://www.wikidata.org/wiki/Q105688","display_name":"Oxygen deficiency","level":3,"score":0.5254706144332886},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4937668740749359},{"id":"https://openalex.org/C2911090574","wikidata":"https://www.wikidata.org/wiki/Q1758393","display_name":"Enzyme deficiency","level":3,"score":0.47570332884788513},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.46276870369911194},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4426080286502838},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.3961138129234314},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.35467010736465454},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.18883690237998962},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1662077009677887},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.15451225638389587},{"id":"https://openalex.org/C34628245","wikidata":"https://www.wikidata.org/wiki/Q356093","display_name":"Adenosine deaminase","level":3,"score":0.09522479772567749},{"id":"https://openalex.org/C540031477","wikidata":"https://www.wikidata.org/wiki/Q629","display_name":"Oxygen","level":2,"score":0.07167792320251465},{"id":"https://openalex.org/C2778198053","wikidata":"https://www.wikidata.org/wiki/Q181754","display_name":"Heart failure","level":2,"score":0.05744317173957825},{"id":"https://openalex.org/C2776991684","wikidata":"https://www.wikidata.org/wiki/Q190012","display_name":"Adenosine","level":2,"score":0.0},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000592","descriptor_name":"Amino Acid Metabolism, Inborn Errors","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000641","descriptor_name":"Ammonia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D000659","descriptor_name":"AMP Deaminase","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D001706","descriptor_name":"Biopsy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005082","descriptor_name":"Physical Exertion","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":"D007042","descriptor_name":"Hypoxanthines","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D007773","descriptor_name":"Lactates","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009132","descriptor_name":"Muscles","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D009709","descriptor_name":"Nucleotide Deaminases","qualifier_ui":"Q000172","qualifier_name":"deficiency","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019271","descriptor_name":"Hypoxanthine","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019344","descriptor_name":"Lactic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/978-1-4684-4553-4_15","doi":"https://doi.org/10.1007/978-1-4684-4553-4_15","is_oa":false,"landing_page_url":"https://doi.org/10.1007/978-1-4684-4553-4_15","pdf_url":null,"source":{"id":"https://openalex.org/S43790123","display_name":"Advances in experimental medicine and biology","issn_l":"0065-2598","issn":["0065-2598","2214-8019"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","jufo-1","ki-jl-1","medline","norway-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"book series"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Advances in Experimental Medicine and Biology","raw_type":"book-chapter"},{"id":"pmid:6720421","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/6720421","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":"Advances in experimental medicine and biology","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":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":7,"referenced_works":["https://openalex.org/W123043519","https://openalex.org/W1528353098","https://openalex.org/W1561466183","https://openalex.org/W2007761127","https://openalex.org/W2077289804","https://openalex.org/W2080719391","https://openalex.org/W2086374979"],"related_works":["https://openalex.org/W2025261143","https://openalex.org/W2103213440","https://openalex.org/W2055854065","https://openalex.org/W1994298313","https://openalex.org/W94825754","https://openalex.org/W2099029672","https://openalex.org/W2088382248","https://openalex.org/W207421840","https://openalex.org/W2768744563","https://openalex.org/W2080719391"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}