{"id":"https://openalex.org/W2000489985","doi":"https://doi.org/10.1126/science.182.4107.62","title":"Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome","display_name":"Peroxisomal and Mitochondrial Defects in the Cerebro-Hepato-Renal Syndrome","publication_year":1973,"publication_date":"1973-10-05","ids":{"openalex":"https://openalex.org/W2000489985","doi":"https://doi.org/10.1126/science.182.4107.62","mag":"2000489985","pmid":"https://pubmed.ncbi.nlm.nih.gov/4730055"},"language":"en","primary_location":{"id":"doi:10.1126/science.182.4107.62","doi":"https://doi.org/10.1126/science.182.4107.62","is_oa":false,"landing_page_url":"https://doi.org/10.1126/science.182.4107.62","pdf_url":null,"source":{"id":"https://openalex.org/S3880285","display_name":"Science","issn_l":"0036-8075","issn":["0036-8075","0193-4511","1095-9203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315823","host_organization_name":"American Association for the Advancement of Science","host_organization_lineage":["https://openalex.org/P4310315823"],"host_organization_lineage_names":["American Association for the Advancement of Science"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Science","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W2000489985"],"child_works_count":0,"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/A5019642896","display_name":"Sidney L. Goldfischer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sidney Goldfischer","raw_affiliation_strings":["Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461","institution_ids":["https://openalex.org/I129975664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102151853","display_name":"Cyril L. Moore","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Cyril L. Moore","raw_affiliation_strings":["Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461","institution_ids":["https://openalex.org/I129975664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003465102","display_name":"Toby Johnson","orcid":"https://orcid.org/0000-0002-5998-3270","observed_orcids":["https://orcid.org/0000-0002-5998-3270"]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Anne B. Johnson","raw_affiliation_strings":["Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461","institution_ids":["https://openalex.org/I129975664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035011824","display_name":"Alfred J. Spiro","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alfred J. Spiro","raw_affiliation_strings":["Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461","institution_ids":["https://openalex.org/I129975664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072613515","display_name":"Marius P. Valsamis","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marius P. Valsamis","raw_affiliation_strings":["Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461","institution_ids":["https://openalex.org/I129975664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005128300","display_name":"Henry K. Wisniewski","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Henry K. Wisniewski","raw_affiliation_strings":["Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461","institution_ids":["https://openalex.org/I129975664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103410444","display_name":"Robert H. Ritch","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert H. Ritch","raw_affiliation_strings":["Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461","institution_ids":["https://openalex.org/I129975664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052962286","display_name":"William T. Norton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"William T. Norton","raw_affiliation_strings":["Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461","institution_ids":["https://openalex.org/I129975664"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105421292","display_name":"Isabelle Rapin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Isabelle Rapin","raw_affiliation_strings":["Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461","institution_ids":["https://openalex.org/I129975664"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5021493495","display_name":"Lawrence M. Gartner","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I129975664","display_name":"Albert Einstein College of Medicine","ror":"https://ror.org/05cf8a891","country_code":"US","type":"education","lineage":["https://openalex.org/I129975664","https://openalex.org/I4210112371"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lawrence M. Gartner","raw_affiliation_strings":["Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pathology, Neurology, and Pediatrics, and Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, New York 10461","institution_ids":["https://openalex.org/I129975664"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I129975664"],"apc_list":null,"apc_paid":null,"fwci":6.0027,"has_fulltext":false,"cited_by_count":788,"citation_normalized_percentile":{"value":0.9650655,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":97,"max":100},"biblio":{"volume":"182","issue":"4107","first_page":"62","last_page":"64"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.7695000171661377,"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":0.7695000171661377,"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/T10301","display_name":"Mitochondrial Function and Pathology","score":0.2272000014781952,"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/T13481","display_name":"Neurological diseases and metabolism","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/2808","display_name":"Neurology"},"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/cerebro-hepato-renal-syndrome","display_name":"cerebro-hepato-renal syndrome","score":0.9660000205039978},{"id":"https://openalex.org/keywords/peroxisomal-disorders","display_name":"peroxisomal disorders","score":0.671999990940094},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.8450000286102295},{"id":"https://openalex.org/keywords/oxidative-phosphorylation","display_name":"oxidative phosphorylation","score":0.4909999966621399},{"id":"https://openalex.org/keywords/electron-transport-chain","display_name":"electron transport chain","score":0.5899999737739563},{"id":"https://openalex.org/keywords/succinate-dehydrogenase","display_name":"succinate dehydrogenase","score":0.9120000004768372},{"id":"https://openalex.org/keywords/coenzyme-q10","display_name":"coenzyme Q10","score":0.8460000157356262},{"id":"https://openalex.org/keywords/hepatocytes","display_name":"hepatocytes","score":0.609000027179718},{"id":"https://openalex.org/keywords/proximal-tubule","display_name":"proximal tubule","score":0.9470000267028809},{"id":"https://openalex.org/keywords/astrocytes","display_name":"astrocytes","score":0.8519999980926514},{"id":"https://openalex.org/keywords/glycogen-storage","display_name":"glycogen storage","score":0.6660000085830688},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.6909999847412109},{"id":"https://openalex.org/keywords/liver-cirrhosis","display_name":"liver cirrhosis","score":0.7509999871253967},{"id":"https://openalex.org/keywords/fat-deposition","display_name":"fat deposition","score":0.5339999794960022},{"id":"https://openalex.org/keywords/iron-storage","display_name":"iron storage","score":0.515999972820282},{"id":"https://openalex.org/keywords/electron-microscopy","display_name":"electron microscopy","score":0.5170000195503235}],"concepts":[{"id":"https://openalex.org/C127078168","wikidata":"https://www.wikidata.org/wiki/Q138639","display_name":"Peroxisome","level":3,"score":0.7773619294166565},{"id":"https://openalex.org/C19167412","wikidata":"https://www.wikidata.org/wiki/Q1961349","display_name":"Cerebro","level":2,"score":0.6831470727920532},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.5662035942077637},{"id":"https://openalex.org/C2780091579","wikidata":"https://www.wikidata.org/wiki/Q9377","display_name":"Kidney","level":2,"score":0.413704514503479},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3774980902671814},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3774380385875702},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3319638967514038},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3289273977279663},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.3188284635543823},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000138","descriptor_name":"Acidosis","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D000138","descriptor_name":"Acidosis","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D001847","descriptor_name":"Bone Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001847","descriptor_name":"Bone Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001923","descriptor_name":"Brain Chemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002540","descriptor_name":"Cerebral Cortex","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"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":"D007684","descriptor_name":"Kidney Tubules","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D007687","descriptor_name":"Kidney Tubules, Proximal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008055","descriptor_name":"Lipids","qualifier_ui":"Q000032","qualifier_name":"analysis","is_major_topic":false},{"descriptor_ui":"D008099","descriptor_name":"Liver","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008830","descriptor_name":"Microbodies","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":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D008930","descriptor_name":"Mitochondria, Liver","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009132","descriptor_name":"Muscles","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D009940","descriptor_name":"Organoids","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010101","descriptor_name":"Oxygen Consumption","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1126/science.182.4107.62","doi":"https://doi.org/10.1126/science.182.4107.62","is_oa":false,"landing_page_url":"https://doi.org/10.1126/science.182.4107.62","pdf_url":null,"source":{"id":"https://openalex.org/S3880285","display_name":"Science","issn_l":"0036-8075","issn":["0036-8075","0193-4511","1095-9203"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","erih-plus","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310315823","host_organization_name":"American Association for the Advancement of Science","host_organization_lineage":["https://openalex.org/P4310315823"],"host_organization_lineage_names":["American Association for the Advancement of Science"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Science","raw_type":"journal-article"},{"id":"pmid:4730055","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/4730055","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":"Science (New York, N.Y.)","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":0.9391000270843506}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":30,"referenced_works":["https://openalex.org/W1483327444","https://openalex.org/W1519056371","https://openalex.org/W1581278512","https://openalex.org/W1984907362","https://openalex.org/W1984963076","https://openalex.org/W1990277329","https://openalex.org/W2015614112","https://openalex.org/W2027337961","https://openalex.org/W2032101761","https://openalex.org/W2047754939","https://openalex.org/W2054760402","https://openalex.org/W2068306635","https://openalex.org/W2070002957","https://openalex.org/W2073124380","https://openalex.org/W2074058488","https://openalex.org/W2078533736","https://openalex.org/W2080274327","https://openalex.org/W2084092834","https://openalex.org/W2085796540","https://openalex.org/W2095146276","https://openalex.org/W2099001561","https://openalex.org/W2139972268","https://openalex.org/W2154460069","https://openalex.org/W2161207886","https://openalex.org/W2166887397","https://openalex.org/W2171941237","https://openalex.org/W2231081458","https://openalex.org/W2318575618","https://openalex.org/W2395057618","https://openalex.org/W2410757768"],"related_works":["https://openalex.org/W2415676686","https://openalex.org/W1984119924","https://openalex.org/W2335557533","https://openalex.org/W2010931272","https://openalex.org/W7039562121","https://openalex.org/W4233511106","https://openalex.org/W2068301989","https://openalex.org/W4239264770","https://openalex.org/W2040365013","https://openalex.org/W2993357678"],"abstract_inverted_index":{"The":[0],"cerebro-hepato-renal":[1],"syndrome":[2],"is":[3,82,88],"a":[4,96,112],"rare":[5],"familial":[6],"malady":[7],"with":[8,73,76,90],"cerebral,":[9],"renal,":[10],"and":[11,18,21,30,45,51,60,69,75,92,119],"skeletal":[12],"abnormalities,":[13],"severe":[14],"hypotonia,":[15],"cirrhosis,":[16],"iron":[17,128],"lipid":[19],"storage,":[20],"death":[22],"within":[23],"6":[24],"months.":[25],"Correlated":[26],"electron":[27,99],"microscopic,":[28],"histochemical,":[29],"biochemical":[31],"studies":[32,106],"demonstrate":[33],"defects":[34],"in":[35,43,57,98,123],"two":[36],"oxidative":[37],"organelles.":[38],"Peroxisomes":[39],"cannot":[40],"be":[41],"found":[42],"hepatocytes":[44,50],"renal":[46],"proximal":[47],"tubules.":[48],"In":[49],"cortical":[52],"astrocytes,":[53],"mitochondria":[54],"are":[55,63],"distorted":[56],"their":[58],"appearance":[59],"glycogen":[61],"stores":[62],"increased.":[64],"Oxygen":[65],"consumnption":[66],"of":[67,107,126],"brain":[68],"liver":[70],"mitochondrial":[71,108],"preparations":[72],"succinate":[74,116],"substrates":[77],"reducing":[78],"nicotinamide":[79],"adenine":[80],"dinucleotide":[81],"markedly":[83],"diminished,":[84],"but":[85],"the":[86,103,115,124],"consumption":[87],"normal":[89],"ascorbate":[91],"tetramethylphenylenediamine,":[93],"which":[94],"suggests":[95],"defect":[97,113],"transport":[100],"prior":[101],"to":[102,111],"cytochromes.":[104],"Histochemical":[105],"oxidation":[109],"point":[110],"between":[114],"dehydrogenase":[117],"flavoprotein":[118],"coenzyme":[120],"Q,":[121],"possibly":[122],"region":[125],"nonheme":[127],"protein.":[129]},"counts_by_year":[{"year":2026,"cited_by_count":6},{"year":2025,"cited_by_count":12},{"year":2024,"cited_by_count":8},{"year":2023,"cited_by_count":6},{"year":2022,"cited_by_count":12},{"year":2021,"cited_by_count":9},{"year":2020,"cited_by_count":13},{"year":2019,"cited_by_count":9},{"year":2018,"cited_by_count":14},{"year":2017,"cited_by_count":13},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":11},{"year":2013,"cited_by_count":13},{"year":2012,"cited_by_count":14}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}
