{"id":"https://openalex.org/W2011742729","doi":"https://doi.org/10.1007/s10545-007-0576-0","title":"Osteoma of the calvaria in l \u20102\u2010hydroxyglutaric aciduria","display_name":"Osteoma of the calvaria in l \u20102\u2010hydroxyglutaric aciduria","publication_year":2007,"publication_date":"2007-10-04","ids":{"openalex":"https://openalex.org/W2011742729","doi":"https://doi.org/10.1007/s10545-007-0576-0","mag":"2011742729","pmid":"https://pubmed.ncbi.nlm.nih.gov/17917788"},"language":"en","primary_location":{"id":"doi:10.1007/s10545-007-0576-0","doi":"https://doi.org/10.1007/s10545-007-0576-0","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10545-007-0576-0","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":"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/A5037450649","display_name":"Abdelmajid Larnaout","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098525","display_name":"H\u00f4pital La Rabta","ror":"https://ror.org/00gffbx54","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210098525"]}],"countries":["TN"],"is_corresponding":true,"raw_author_name":"A. Larnaout","raw_affiliation_strings":["Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia","Institut National de Neurologie, La Rabta, Tunis, 1007 Tunisia","[email protected]"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia","institution_ids":["https://openalex.org/I4210098525"]},{"raw_affiliation_string":"Institut National de Neurologie, La Rabta, Tunis, 1007 Tunisia","institution_ids":[]},{"raw_affiliation_string":"[email protected]","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069738625","display_name":"Rim Amouri","orcid":"https://orcid.org/0000-0001-5641-5748","observed_orcids":["https://orcid.org/0000-0001-5641-5748"]},"institutions":[{"id":"https://openalex.org/I4210098525","display_name":"H\u00f4pital La Rabta","ror":"https://ror.org/00gffbx54","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210098525"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"R. Amouri","raw_affiliation_strings":["Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia","institution_ids":["https://openalex.org/I4210098525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025489935","display_name":"S. Neji","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210158266","display_name":"National Institute of Neurology Mongi-Ben Hamida","ror":"https://ror.org/02mqbx112","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210158266"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"S. Neji","raw_affiliation_strings":["Service de Neuroradiologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de Neuroradiologie, Institut National de Neurologie, La Rabta, Tunis, Tunisia","institution_ids":["https://openalex.org/I4210158266"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080005977","display_name":"Mourad Zouari","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098525","display_name":"H\u00f4pital La Rabta","ror":"https://ror.org/00gffbx54","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210098525"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"M. Zouari","raw_affiliation_strings":["Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia","institution_ids":["https://openalex.org/I4210098525"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066153934","display_name":"Naziha Kaabachi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098525","display_name":"H\u00f4pital La Rabta","ror":"https://ror.org/00gffbx54","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210098525"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"N. Kaabachi","raw_affiliation_strings":["Laboratoire de Biochimie H\u00f4pital la Rabta Tunis Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratoire de Biochimie H\u00f4pital la Rabta Tunis Tunisia","institution_ids":["https://openalex.org/I4210098525"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5109998085","display_name":"Fay\u00e7al Hentati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098525","display_name":"H\u00f4pital La Rabta","ror":"https://ror.org/00gffbx54","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210098525"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"F. Hentati","raw_affiliation_strings":["Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut National de Neurologie H\u00f4pital la Rabta Tunis Tunisia","institution_ids":["https://openalex.org/I4210098525"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5037450649"],"corresponding_institution_ids":["https://openalex.org/I4210098525"],"apc_list":{"value":3470,"currency":"USD","value_usd":3470},"apc_paid":null,"fwci":1.5126,"has_fulltext":false,"cited_by_count":17,"citation_normalized_percentile":{"value":0.78624813,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"30","issue":"6","first_page":"980","last_page":"980"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9355000257492065,"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":0.9355000257492065,"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/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.008500000461935997,"subfield":{"id":"https://openalex.org/subfields/2732","display_name":"Orthopedics and Sports Medicine"},"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.0052999998442828655,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"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"}}],"keywords":[{"id":"https://openalex.org/keywords/l-2-hydroxyglutaric-aciduria","display_name":"L-2-hydroxyglutaric aciduria","score":0.9929999709129333},{"id":"https://openalex.org/keywords/osteoma","display_name":"osteoma","score":0.8529999852180481},{"id":"https://openalex.org/keywords/calvaria","display_name":"calvaria","score":0.8450000286102295},{"id":"https://openalex.org/keywords/brain-tumors","display_name":"brain tumors","score":0.640999972820282},{"id":"https://openalex.org/keywords/carcinogenesis","display_name":"carcinogenesis","score":0.8949999809265137},{"id":"https://openalex.org/keywords/neurometabolic-disorders","display_name":"neurometabolic disorders","score":0.7889999747276306},{"id":"https://openalex.org/keywords/white-matter-degeneration","display_name":"white matter degeneration","score":0.6190000176429749},{"id":"https://openalex.org/keywords/macrocephaly","display_name":"macrocephaly","score":0.6510000228881836},{"id":"https://openalex.org/keywords/cerebellar-ataxia","display_name":"cerebellar ataxia","score":0.8870000243186951}],"concepts":[{"id":"https://openalex.org/C2781083543","wikidata":"https://www.wikidata.org/wiki/Q635339","display_name":"Macrocephaly","level":2,"score":0.6325486302375793},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5434967875480652},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5396474003791809},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5334577560424805},{"id":"https://openalex.org/C2781192897","wikidata":"https://www.wikidata.org/wiki/Q822050","display_name":"White matter","level":3,"score":0.5085102319717407},{"id":"https://openalex.org/C2778234038","wikidata":"https://www.wikidata.org/wiki/Q10748814","display_name":"Megalencephaly","level":2,"score":0.43528512120246887},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.4332214593887329},{"id":"https://openalex.org/C2780906641","wikidata":"https://www.wikidata.org/wiki/Q213373","display_name":"Ataxia","level":2,"score":0.410940945148468},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3911812901496887},{"id":"https://openalex.org/C143409427","wikidata":"https://www.wikidata.org/wiki/Q161238","display_name":"Magnetic resonance imaging","level":2,"score":0.25578707456588745},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.09045228362083435},{"id":"https://openalex.org/C126838900","wikidata":"https://www.wikidata.org/wiki/Q77604","display_name":"Radiology","level":1,"score":0.08645623922348022}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001859","descriptor_name":"Bone Neoplasms","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D001859","descriptor_name":"Bone Neoplasms","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D001859","descriptor_name":"Bone Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D001859","descriptor_name":"Bone Neoplasms","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003404","descriptor_name":"Creatinine","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005977","descriptor_name":"Glutarates","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006720","descriptor_name":"Homozygote","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":"D008279","descriptor_name":"Magnetic Resonance Imaging","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010016","descriptor_name":"Osteoma","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D010016","descriptor_name":"Osteoma","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D010016","descriptor_name":"Osteoma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010016","descriptor_name":"Osteoma","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015140","descriptor_name":"Dementia, Vascular","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D020739","descriptor_name":"Brain Diseases, Metabolic, Inborn","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D020739","descriptor_name":"Brain Diseases, Metabolic, Inborn","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020739","descriptor_name":"Brain Diseases, Metabolic, Inborn","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020739","descriptor_name":"Brain Diseases, Metabolic, Inborn","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020739","descriptor_name":"Brain Diseases, Metabolic, Inborn","qualifier_ui":"Q000652","qualifier_name":"urine","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/s10545-007-0576-0","doi":"https://doi.org/10.1007/s10545-007-0576-0","is_oa":false,"landing_page_url":"https://doi.org/10.1007/s10545-007-0576-0","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:17917788","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17917788","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":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.98580002784729,"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":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2151358436","https://openalex.org/W2085267600","https://openalex.org/W2996210880","https://openalex.org/W2084889895","https://openalex.org/W2086557601","https://openalex.org/W2048668805","https://openalex.org/W4399785747","https://openalex.org/W2089976626","https://openalex.org/W2751898976","https://openalex.org/W2131042906"],"abstract_inverted_index":{"L-2-Hydroxyglutaric":[0],"aciduria":[1],"(L-2-OHGA)":[2],"is":[3,15,37],"a":[4,70,84,167],"rare":[5],"autosomal":[6],"recessive":[7],"neurometabolic":[8],"disease":[9,75,215],"linked":[10],"to":[11,34,204,222],"chromosome":[12],"14q21.1":[13],"and":[14,44,48,110,119,131,144,199,201,221,236],"caused":[16],"by":[17,39,73,245],"mutations":[18],"in":[19,66,138,170,213,232,241],"the":[20,78,88,93,100,162,175,183,192,195,206,217,228,233,237],"gene":[21,165,235],"that":[22],"most":[23],"likely":[24],"encodes":[25],"L:":[26,32],"-2-hydroxyglutarate":[27,33],"dehydrogenase,":[28],"which":[29],"normally":[30],"catalyses":[31],"alpha-ketoglutarate.":[35],"It":[36],"characterized":[38],"progressive":[40],"mental":[41,112],"deterioration,":[42],"pyramidal":[43],"cerebellar":[45,117],"syndromes,":[46],"macrocephaly":[47],"marked":[49],"polycystic":[50],"white-matter":[51],"degeneration":[52],"mainly":[53],"involving":[54,87],"frontal":[55,90,185],"lobes.":[56],"Brain":[57,122],"tumours":[58,220],"of":[59,80,92,102,161,177,182,197,209,219,230],"variable":[60],"nature":[61],"have":[62],"frequently":[63],"been":[64],"observed":[65,240],"L-2-OHGA.":[67],"We":[68],"report":[69],"patient":[71],"affected":[72,244],"this":[74,214,246],"who":[76],"at":[77,99],"age":[79,101,176],"20":[81,178],"years":[82,104],"developed":[83],"bone":[85,186],"tumour":[86],"right":[89,184],"region":[91],"calvaria.":[94],"He":[95],"had":[96],"first":[97],"presented":[98],"10":[103],"with":[105],"psychomotor":[106],"delay,":[107],"clumsy":[108],"gait":[109],"moderate":[111],"impairment.":[113],"Examination":[114],"showed":[115,124],"macrocephaly,":[116],"ataxia":[118],"quadripyramidal":[120],"syndrome.":[121],"MRI":[123],"low":[125],"signal":[126,133],"intensities":[127,134],"on":[128,135],"T1-weighted":[129],"images":[130,137],"high":[132],"T2-weighted":[136],"cerebral":[139],"subcortical":[140],"white":[141],"matter.":[142],"Serum":[143],"urinary":[145],"amino":[146],"acid":[147,153],"assay":[148],"was":[149,154,187],"normal.":[150],"Urinary":[151],"2-hydroxyglutaric":[152],"1418":[155],"mmol/mol":[156],"creatinine":[157],"(controls":[158],"<25).":[159],"Analysis":[160],"L-2-hydroxyglutarate":[163],"dehydrogenase":[164],"revealed":[166],"homozygous":[168],"mutation":[169,231],"exon":[171],"2":[172],"(A320G).":[173],"At":[174],"years,":[179],"an":[180],"osteoma":[181],"diagnosed.":[188],"This":[189],"finding":[190],"reinforces":[191],"opinion":[193],"concerning":[194],"association":[196],"L-2-OHGA":[198,234],"tumorigenesis":[200],"prompted":[202],"us":[203],"verify":[205],"possible":[207],"responsibility":[208],"some":[210,242],"overproduced":[211],"substances":[212],"for":[216,224],"development":[218],"look":[223],"any":[225],"correlation":[226],"between":[227],"type":[229],"tumorigenic":[238],"potential":[239],"patients":[243],"disease.":[247]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2015,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}