{"id":"https://openalex.org/W2106485907","doi":"https://doi.org/10.1007/bf01799621","title":"Adrenoleukodystrophy: Phenotypic variability and implications for therapy","display_name":"Adrenoleukodystrophy: Phenotypic variability and implications for therapy","publication_year":1992,"publication_date":"1992-07-01","ids":{"openalex":"https://openalex.org/W2106485907","doi":"https://doi.org/10.1007/bf01799621","mag":"2106485907","pmid":"https://pubmed.ncbi.nlm.nih.gov/1528023"},"language":"en","primary_location":{"id":"doi:10.1007/bf01799621","doi":"https://doi.org/10.1007/bf01799621","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf01799621","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","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/A5108237987","display_name":"H. W. Moser","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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H. W. Moser","raw_affiliation_strings":["Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059798104","display_name":"Ann B. Moser","orcid":"https://orcid.org/0000-0002-9147-1902","observed_orcids":["https://orcid.org/0000-0002-9147-1902"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. B. Moser","raw_affiliation_strings":["Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110990711","display_name":"Kirby D. Smith","orcid":"https://orcid.org/0000-0002-8301-9625","observed_orcids":["https://orcid.org/0000-0002-8301-9625"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K. D. Smith","raw_affiliation_strings":["Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025949000","display_name":"Ann Marie R. Bergin","orcid":"https://orcid.org/0000-0002-9750-8278","observed_orcids":["https://orcid.org/0000-0002-9750-8278"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"A. Bergin","raw_affiliation_strings":["Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036995762","display_name":"Janet S. Borel","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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. Borel","raw_affiliation_strings":["Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002137594","display_name":"Jan Shankroff","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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. Shankroff","raw_affiliation_strings":["Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016230559","display_name":"Oscar Colin Stine","orcid":"https://orcid.org/0000-0003-3974-3752","observed_orcids":["https://orcid.org/0000-0003-3974-3752"]},"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"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"O. C. Stine","raw_affiliation_strings":["Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kennedy Institute and Departments of Neurology, Pediatrics and Psychiatry, Johns Hopkins University, USA","institution_ids":["https://openalex.org/I145311948"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002060836","display_name":"Chantal M\u00e9rette","orcid":"https://orcid.org/0000-0003-4033-0576","observed_orcids":["https://orcid.org/0000-0003-4033-0576"]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C. Merette","raw_affiliation_strings":["The Departments of Psychiatry and Genetics and Development, Columbia University, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Departments of Psychiatry and Genetics and Development, Columbia University, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111471153","display_name":"Jurg Ott","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I78577930","display_name":"Columbia University","ror":"https://ror.org/00hj8s172","country_code":"US","type":"education","lineage":["https://openalex.org/I78577930"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. Ott","raw_affiliation_strings":["The Departments of Psychiatry and Genetics and Development, Columbia University, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Departments of Psychiatry and Genetics and Development, Columbia University, USA","institution_ids":["https://openalex.org/I78577930"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047077103","display_name":"William A. Krivit","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"W. Krivit","raw_affiliation_strings":["Departments of Pediatrics and Neurology University of Minnesota USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Neurology University of Minnesota USA","institution_ids":["https://openalex.org/I130238516"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5054062079","display_name":"Elsa Shapiro","orcid":"https://orcid.org/0000-0003-0276-0276","observed_orcids":["https://orcid.org/0000-0003-0276-0276"]},"institutions":[{"id":"https://openalex.org/I130238516","display_name":"University of Minnesota","ror":"https://ror.org/017zqws13","country_code":"US","type":"education","lineage":["https://openalex.org/I130238516"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"E. Shapiro","raw_affiliation_strings":["Departments of Pediatrics and Neurology University of Minnesota USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics and Neurology University of Minnesota USA","institution_ids":["https://openalex.org/I130238516"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3470,"currency":"USD","value_usd":3470},"apc_paid":null,"fwci":4.912,"has_fulltext":false,"cited_by_count":240,"citation_normalized_percentile":{"value":1.0,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"15","issue":"4","first_page":"645","last_page":"664"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9564999938011169,"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":0.9564999938011169,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0364999994635582,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.0015999999595806003,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/x-linked-adrenoleukodystrophy","display_name":"X-linked adrenoleukodystrophy","score":0.9509999752044678},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.9580000042915344},{"id":"https://openalex.org/keywords/adrenomyeloneuropathy","display_name":"adrenomyeloneuropathy","score":0.9620000123977661},{"id":"https://openalex.org/keywords/segregation-analysis","display_name":"segregation analysis","score":0.8960000276565552},{"id":"https://openalex.org/keywords/dietary-therapy","display_name":"dietary therapy","score":0.765999972820282},{"id":"https://openalex.org/keywords/very-long-chain-fatty-acids","display_name":"very long chain fatty acids","score":0.9449999928474426},{"id":"https://openalex.org/keywords/monounsaturated-fatty-acids","display_name":"monounsaturated fatty acids","score":0.8460000157356262},{"id":"https://openalex.org/keywords/bone-marrow-transplantation","display_name":"bone marrow transplantation","score":0.9020000100135803},{"id":"https://openalex.org/keywords/disease-progression","display_name":"disease progression","score":0.7200000286102295},{"id":"https://openalex.org/keywords/immunosuppression","display_name":"immunosuppression","score":0.8859999775886536},{"id":"https://openalex.org/keywords/immunoglobulin-therapy","display_name":"immunoglobulin therapy","score":0.9010000228881836}],"concepts":[{"id":"https://openalex.org/C2777150068","wikidata":"https://www.wikidata.org/wiki/Q366964","display_name":"Adrenoleukodystrophy","level":4,"score":0.9335049390792847},{"id":"https://openalex.org/C2911091166","wikidata":"https://www.wikidata.org/wiki/Q106419912","display_name":"Transplantation","level":2,"score":0.534381628036499},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5059110522270203},{"id":"https://openalex.org/C50965678","wikidata":"https://www.wikidata.org/wiki/Q2724302","display_name":"Abnormality","level":2,"score":0.48693668842315674},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4842762351036072},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.450354665517807},{"id":"https://openalex.org/C2777767895","wikidata":"https://www.wikidata.org/wiki/Q4691924","display_name":"Age of onset","level":3,"score":0.41156718134880066},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3777995705604553},{"id":"https://openalex.org/C42407357","wikidata":"https://www.wikidata.org/wiki/Q521","display_name":"Physiology","level":1,"score":0.35439905524253845},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.3482038974761963},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.34175005555152893},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0},{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.0},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000326","descriptor_name":"Adrenoleukodystrophy","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false},{"descriptor_ui":"D000326","descriptor_name":"Adrenoleukodystrophy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000326","descriptor_name":"Adrenoleukodystrophy","qualifier_ui":"Q000628","qualifier_name":"therapy","is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","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":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016026","descriptor_name":"Bone Marrow Transplantation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/bf01799621","doi":"https://doi.org/10.1007/bf01799621","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf01799621","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:1528023","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1528023","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","display_name":"Good health and well-being","score":1.0}],"study_designs":[],"awards":[{"id":"https://openalex.org/G373348672","display_name":null,"funder_award_id":"RR 000 52","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"},{"id":"https://openalex.org/G5779482540","display_name":"Mental Retardation and Developmental Disabilities Research Centers 2008","funder_award_id":"P30HD024061","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G7410354543","display_name":"Genetic Causes of Mental Retardation","funder_award_id":"P01HD010981","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"}],"funders":[{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":49,"referenced_works":["https://openalex.org/W149737","https://openalex.org/W2582202","https://openalex.org/W189903418","https://openalex.org/W272530661","https://openalex.org/W288086641","https://openalex.org/W1523064431","https://openalex.org/W1841137819","https://openalex.org/W1965985561","https://openalex.org/W1968565980","https://openalex.org/W1970011811","https://openalex.org/W1970117097","https://openalex.org/W1972896422","https://openalex.org/W1977221209","https://openalex.org/W1990906452","https://openalex.org/W1991432870","https://openalex.org/W1991664740","https://openalex.org/W1997337965","https://openalex.org/W2001955255","https://openalex.org/W2005960977","https://openalex.org/W2012361337","https://openalex.org/W2012667579","https://openalex.org/W2015326804","https://openalex.org/W2016197120","https://openalex.org/W2023503516","https://openalex.org/W2024607954","https://openalex.org/W2026412613","https://openalex.org/W2030901218","https://openalex.org/W2031534055","https://openalex.org/W2033561631","https://openalex.org/W2035851563","https://openalex.org/W2040999360","https://openalex.org/W2049956690","https://openalex.org/W2053619761","https://openalex.org/W2087756944","https://openalex.org/W2089560150","https://openalex.org/W2101745171","https://openalex.org/W2107786477","https://openalex.org/W2130581657","https://openalex.org/W2159972914","https://openalex.org/W2164071022","https://openalex.org/W2171074759","https://openalex.org/W2222090074","https://openalex.org/W2320234030","https://openalex.org/W2320665909","https://openalex.org/W2405176776","https://openalex.org/W2414939466","https://openalex.org/W2416728968","https://openalex.org/W2735222644","https://openalex.org/W3145894777"],"related_works":["https://openalex.org/W152956404","https://openalex.org/W2145948329","https://openalex.org/W2053667326","https://openalex.org/W3023826720","https://openalex.org/W2434850716","https://openalex.org/W2063505190","https://openalex.org/W4405723773","https://openalex.org/W4244992444","https://openalex.org/W2050642893","https://openalex.org/W2008239986"],"abstract_inverted_index":{"X-linked":[0],"adrenoleukodystrophy":[1],"(ALD)":[2],"is":[3,29,80,200,239,261],"a":[4,10,60,83,121,144,197],"relatively":[5],"common":[6],"disorder":[7],"that":[8,28,62,147,245],"shows":[9,70],"great":[11],"deal":[12],"of":[13,18,54,90,115,124,132,135,151,164,174,211,221,231,251,272,276,291],"phenotypic":[14],"variability.":[15],"Approximately":[16],"half":[17],"the":[19,22,45,55,66,91,96,113,149,161,172,209,218,249,252,269,273,277,289],"patients":[20,56,141,193,215,255],"have":[21,57,142,217],"rapidly":[23],"progressive":[24],"childhood":[25],"cerebral":[26,274],"form":[27,61],"associated":[30],"with":[31,82,120,160,194,256],"an":[32,116],"inflammatory":[33,74],"response":[34],"in":[35,77,108,180,192,201,214,235,254],"brain":[36],"and":[37,79,99,139,158,196],"leads":[38],"to":[39,112,187,203,264,267],"total":[40],"disability":[41],"or":[42,52,72,288],"death":[43],"during":[44],"first":[46],"decade.":[47],"Twenty":[48],"five":[49],"per":[50],"cent":[51],"more":[53],"adrenomyeloneuropathy":[58],"(AMN),":[59],"progresses":[63],"slowly,":[64],"involves":[65],"spinal":[67],"cord":[68],"mainly,":[69],"little":[71],"no":[73],"response,":[75],"manifests":[76],"adulthood,":[78],"compatible":[81],"near-normal":[84],"life":[85],"span.":[86],"The":[87],"two":[88],"forms":[89,275],"disease":[92,253],"occur":[93],"frequently":[94],"within":[95,182],"same":[97],"kindreds":[98,110],"nuclear":[100],"families.":[101],"Segregation":[102],"analysis":[103],"based":[104],"on":[105],"3862":[106],"individuals":[107],"89":[109],"points":[111],"existence":[114],"autosomal":[117],"modifier":[118],"locus":[119],"likelihood":[122],"ratio":[123],"20:1.":[125],"In":[126],"addition,":[127],"we":[128],"present":[129],"preliminary":[130,243],"results":[131,230],"three":[133],"types":[134],"therapy.":[136],"Two":[137],"hundred":[138],"four":[140],"received":[143],"dietary":[145],"regimen":[146,170],"combines":[148],"administration":[150,290],"oils":[152],"containing":[153],"mono-unsaturated":[154],"fatty":[155,167,178],"acids":[156,179],"(oleic":[157],"erucic)":[159],"restricted":[162],"intake":[163],"very":[165,176],"long-chain":[166,177],"acids.":[168],"This":[169],"normalizes":[171],"levels":[173],"satured":[175],"plasma":[181],"4":[183],"weeks.":[184],"It":[185],"appears":[186],"improve":[188],"peripheral":[189],"nerve":[190],"function":[191],"AMN,":[195],"large-scale":[198],"trial":[199],"progress":[202],"determine":[204],"whether":[205],"it":[206],"can":[207,247],"prevent":[208],"onset":[210],"neurological":[212,258],"involvement":[213],"who":[216],"biochemical":[219],"abnormality":[220],"ALD":[222],"but":[223,241],"are":[224],"neurologically":[225],"intact.":[226],"We":[227],"report":[228],"early":[229],"bone":[232],"marrow":[233],"transplantation":[234,246],"14":[236],"patients.":[237],"There":[238,260],"encouraging":[240],"still":[242],"evidence":[244],"arrest":[248],"progression":[250,271],"mild":[257],"involvement.":[259],"urgent":[262],"need":[263],"develop":[265],"methods":[266],"combat":[268],"rapid":[270],"disease,":[278],"which":[279],"so":[280],"far":[281],"has":[282],"resisted":[283],"therapeutic":[284],"intervention,":[285],"including":[286],"immunosuppression":[287],"immunoglobulin.":[292]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":5},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":5},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}
