{"id":"https://openalex.org/W1973064484","doi":"https://doi.org/10.1016/s0022-3476(76)80038-8","title":"Phenylketonuria and Duchenne muscular dystrophy: A case report","display_name":"Phenylketonuria and Duchenne muscular dystrophy: A case report","publication_year":1976,"publication_date":"1976-04-01","ids":{"openalex":"https://openalex.org/W1973064484","doi":"https://doi.org/10.1016/s0022-3476(76)80038-8","mag":"1973064484","pmid":"https://pubmed.ncbi.nlm.nih.gov/1255331"},"language":"en","primary_location":{"id":"doi:10.1016/s0022-3476(76)80038-8","doi":"https://doi.org/10.1016/s0022-3476(76)80038-8","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0022-3476(76)80038-8","pdf_url":"https://doi.org/10.1016/s0022-3476(76)80038-8","source":{"id":"https://openalex.org/S3774022","display_name":"The Journal of Pediatrics","issn_l":"0022-3476","issn":["0022-3476","1085-8695","1097-6833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"The Journal of Pediatrics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://doi.org/10.1016/s0022-3476(76)80038-8","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5108584330","display_name":"Karl S. Roth","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Karl S. Roth","raw_affiliation_strings":["Division of Biochemical Development and Neurology Children's Hospital of Philadelphia Department of Pediatrics and Medicine University of Pennsylvania Philadelphia, Pa. 19104 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Biochemical Development and Neurology Children's Hospital of Philadelphia Department of Pediatrics and Medicine University of Pennsylvania Philadelphia, Pa. 19104 USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110060852","display_name":"Robert M. Cohn","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert M. Cohn","raw_affiliation_strings":["Division of Biochemical Development and Neurology Children's Hospital of Philadelphia Department of Pediatrics and Medicine University of Pennsylvania Philadelphia, Pa. 19104 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Biochemical Development and Neurology Children's Hospital of Philadelphia Department of Pediatrics and Medicine University of Pennsylvania Philadelphia, Pa. 19104 USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110274765","display_name":"Peter H. Berman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Peter Berman","raw_affiliation_strings":["Division of Biochemical Development and Neurology Children's Hospital of Philadelphia Department of Pediatrics and Medicine University of Pennsylvania Philadelphia, Pa. 19104 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Biochemical Development and Neurology Children's Hospital of Philadelphia Department of Pediatrics and Medicine University of Pennsylvania Philadelphia, Pa. 19104 USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113556670","display_name":"Stanton Segal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stanton Segal","raw_affiliation_strings":["Division of Biochemical Development and Neurology Children's Hospital of Philadelphia Department of Pediatrics and Medicine University of Pennsylvania Philadelphia, Pa. 19104 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Biochemical Development and Neurology Children's Hospital of Philadelphia Department of Pediatrics and Medicine University of Pennsylvania Philadelphia, Pa. 19104 USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4570,"currency":"USD","value_usd":4570},"apc_paid":null,"fwci":0.3905,"has_fulltext":true,"cited_by_count":3,"citation_normalized_percentile":{"value":0.54316547,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":94,"max":96},"biblio":{"volume":"88","issue":"4","first_page":"689","last_page":"690"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9916999936103821,"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":0.9916999936103821,"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":0.0019000000320374966,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/phenylketonuria","display_name":"phenylketonuria","score":1.0},{"id":"https://openalex.org/keywords/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":0.996999979019165},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.8349999785423279}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9536632299423218},{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.843029797077179},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.4998588562011719},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.39185401797294617},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2563851773738861}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005188","descriptor_name":"False Negative Reactions","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010661","descriptor_name":"Phenylketonurias","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D010661","descriptor_name":"Phenylketonurias","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/s0022-3476(76)80038-8","doi":"https://doi.org/10.1016/s0022-3476(76)80038-8","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0022-3476(76)80038-8","pdf_url":"https://doi.org/10.1016/s0022-3476(76)80038-8","source":{"id":"https://openalex.org/S3774022","display_name":"The Journal of Pediatrics","issn_l":"0022-3476","issn":["0022-3476","1085-8695","1097-6833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"The Journal of Pediatrics","raw_type":"journal-article"},{"id":"pmid:1255331","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1255331","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":"The Journal of pediatrics","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1016/s0022-3476(76)80038-8","doi":"https://doi.org/10.1016/s0022-3476(76)80038-8","is_oa":true,"landing_page_url":"https://doi.org/10.1016/s0022-3476(76)80038-8","pdf_url":"https://doi.org/10.1016/s0022-3476(76)80038-8","source":{"id":"https://openalex.org/S3774022","display_name":"The Journal of Pediatrics","issn_l":"0022-3476","issn":["0022-3476","1085-8695","1097-6833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","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":"The Journal of Pediatrics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W1973064484.pdf","grobid_xml":"https://content.openalex.org/works/W1973064484.grobid-xml"},"referenced_works_count":5,"referenced_works":["https://openalex.org/W2014534863","https://openalex.org/W2039469089","https://openalex.org/W2067069792","https://openalex.org/W2186799770","https://openalex.org/W2333301419"],"related_works":["https://openalex.org/W2416482639","https://openalex.org/W7046613892","https://openalex.org/W2566661394","https://openalex.org/W2413643612","https://openalex.org/W2415301552","https://openalex.org/W2433234298","https://openalex.org/W2411315645","https://openalex.org/W4399983697","https://openalex.org/W2612164181","https://openalex.org/W2408400177"],"abstract_inverted_index":null,"counts_by_year":[{"year":2015,"cited_by_count":2}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
