{"id":"https://openalex.org/W2011194777","doi":"https://doi.org/10.1007/bf00451961","title":"Giant axonal neuropathy. Endocrinological and histological studies","display_name":"Giant axonal neuropathy. Endocrinological and histological studies","publication_year":1985,"publication_date":"1985-09-01","ids":{"openalex":"https://openalex.org/W2011194777","doi":"https://doi.org/10.1007/bf00451961","mag":"2011194777","pmid":"https://pubmed.ncbi.nlm.nih.gov/4054168"},"language":"en","primary_location":{"id":"doi:10.1007/bf00451961","doi":"https://doi.org/10.1007/bf00451961","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00451961","pdf_url":null,"source":{"id":"https://openalex.org/S48201647","display_name":"European Journal of Pediatrics","issn_l":"0340-6199","issn":["0340-6199","1432-1076"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"European Journal of Pediatrics","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/A5079303026","display_name":"A. Fois","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A. Fois","raw_affiliation_strings":["Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]},{"raw_affiliation_string":"Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021199798","display_name":"Paolo Balestri","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"P. Balestri","raw_affiliation_strings":["Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]},{"raw_affiliation_string":"Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111580351","display_name":"Maria Angela Farnetani","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"M. A. Farnetani","raw_affiliation_strings":["Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]},{"raw_affiliation_string":"Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111567609","display_name":"Rosario Berardi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"R. Berardi","raw_affiliation_strings":["Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]},{"raw_affiliation_string":"Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001956827","display_name":"Rosalba Mattei","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"R. Mattei","raw_affiliation_strings":["Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]},{"raw_affiliation_string":"Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084457127","display_name":"E. Laurenzi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"E. Laurenzi","raw_affiliation_strings":["Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinica Pediatrica Universit\u00e0 di Siena, Via Mattioli, 10, I-53100, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]},{"raw_affiliation_string":"Clinica Pediatrica, Universit\u00e0 di Siena, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078891935","display_name":"Carlo Alessandrini","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"C. Alessandrini","raw_affiliation_strings":["Istituto di Istologia e Embriologia Generale Universit\u00e0 di Siena, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Istologia e Embriologia Generale Universit\u00e0 di Siena, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088498114","display_name":"Renato Gerli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I102064193","display_name":"University of Siena","ror":"https://ror.org/01tevnk56","country_code":"IT","type":"education","lineage":["https://openalex.org/I102064193"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"R. Gerli","raw_affiliation_strings":["Istituto di Istologia e Embriologia Generale Universit\u00e0 di Siena, Siena, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Istologia e Embriologia Generale Universit\u00e0 di Siena, Siena, Italy","institution_ids":["https://openalex.org/I102064193"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009559611","display_name":"A Ribuffo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"A. Ribuffo","raw_affiliation_strings":["Clinica Dermatologica Universit\u00e0 \u201cLa Sapienza\u201d, Roma"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinica Dermatologica Universit\u00e0 \u201cLa Sapienza\u201d, Roma","institution_ids":["https://openalex.org/I861853513"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5071872502","display_name":"Stefano Calvieri","orcid":"https://orcid.org/0000-0003-3735-4585","observed_orcids":["https://orcid.org/0000-0003-3735-4585"]},"institutions":[{"id":"https://openalex.org/I861853513","display_name":"Sapienza University of Rome","ror":"https://ror.org/02be6w209","country_code":"IT","type":"education","lineage":["https://openalex.org/I861853513"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"S. Calvieri","raw_affiliation_strings":["Clinica Dermatologica Universit\u00e0 \u201cLa Sapienza\u201d, Roma"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinica Dermatologica Universit\u00e0 \u201cLa Sapienza\u201d, Roma","institution_ids":["https://openalex.org/I861853513"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":null,"fwci":0.5412,"has_fulltext":false,"cited_by_count":25,"citation_normalized_percentile":{"value":0.55319149,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"144","issue":"3","first_page":"274","last_page":"280"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9789999723434448,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9789999723434448,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11650","display_name":"Skin and Cellular Biology Research","score":0.01860000006854534,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell 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/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/giant-axonal-neuropathy","display_name":"giant axonal neuropathy","score":1.0},{"id":"https://openalex.org/keywords/peripheral-neuropathy","display_name":"peripheral neuropathy","score":0.6380000114440918},{"id":"https://openalex.org/keywords/central-nervous-system-involvement","display_name":"central nervous system involvement","score":0.7519999742507935},{"id":"https://openalex.org/keywords/nerve-conduction-velocity","display_name":"nerve conduction velocity","score":0.7940000295639038},{"id":"https://openalex.org/keywords/vitamin-b12-malabsorption","display_name":"vitamin B12 malabsorption","score":0.8769999742507935},{"id":"https://openalex.org/keywords/prednisone","display_name":"prednisone","score":0.9010000228881836},{"id":"https://openalex.org/keywords/sural-nerve","display_name":"sural nerve","score":0.6840000152587891},{"id":"https://openalex.org/keywords/intermediate-filaments","display_name":"intermediate filaments","score":0.7329999804496765},{"id":"https://openalex.org/keywords/protein-metabolism-disorders","display_name":"protein metabolism disorders","score":0.7789999842643738},{"id":"https://openalex.org/keywords/mast-cells","display_name":"mast cells","score":0.503000020980835},{"id":"https://openalex.org/keywords/schwann-cells","display_name":"Schwann cells","score":0.8420000076293945}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9397187232971191},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4533393681049347},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.441464900970459}],"mesh":[{"descriptor_ui":"D001369","descriptor_name":"Axons","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003228","descriptor_name":"Conjunctiva","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D004569","descriptor_name":"Electroencephalography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006197","descriptor_name":"Hair","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007382","descriptor_name":"Intermediate Filaments","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D007408","descriptor_name":"Intestinal Absorption","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":"D008854","descriptor_name":"Microscopy, Electron","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009422","descriptor_name":"Nervous System Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D009431","descriptor_name":"Neural Conduction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012867","descriptor_name":"Skin","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D013497","descriptor_name":"Sural Nerve","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D014805","descriptor_name":"Vitamin B 12","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1007/bf00451961","doi":"https://doi.org/10.1007/bf00451961","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00451961","pdf_url":null,"source":{"id":"https://openalex.org/S48201647","display_name":"European Journal of Pediatrics","issn_l":"0340-6199","issn":["0340-6199","1432-1076"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","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":"European Journal of Pediatrics","raw_type":"journal-article"},{"id":"pmid:4054168","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/4054168","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":"European journal of pediatrics","raw_type":"Case Reports"},{"id":"pmh:oai:iris.uniroma1.it:11573/33803","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11573/33803","pdf_url":null,"source":{"id":"https://openalex.org/S4377196107","display_name":"IRIS Research product catalog (Sapienza University of Rome)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1534398894","https://openalex.org/W1967039117","https://openalex.org/W1989607658","https://openalex.org/W1991262033","https://openalex.org/W1995007373","https://openalex.org/W2007983551","https://openalex.org/W2009810992","https://openalex.org/W2024718203","https://openalex.org/W2032514610","https://openalex.org/W2065629602","https://openalex.org/W2069787654","https://openalex.org/W2070723292","https://openalex.org/W2071617765","https://openalex.org/W2086202990","https://openalex.org/W2094484875","https://openalex.org/W2103498520","https://openalex.org/W2103752060","https://openalex.org/W2167931871","https://openalex.org/W2395135357","https://openalex.org/W2885199471","https://openalex.org/W2887387795","https://openalex.org/W2996911437","https://openalex.org/W4205500912"],"related_works":["https://openalex.org/W2412574422","https://openalex.org/W2062118530","https://openalex.org/W2027604953","https://openalex.org/W1995832290","https://openalex.org/W2887387795","https://openalex.org/W2408953971","https://openalex.org/W2038803124","https://openalex.org/W157222012","https://openalex.org/W2104499610","https://openalex.org/W2611727285"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}