{"id":"https://openalex.org/W2397174367","doi":null,"title":"[Tyrosinemia type II. Case report].","display_name":"[Tyrosinemia type II. Case report].","publication_year":2005,"publication_date":"2005-01-01","ids":{"openalex":"https://openalex.org/W2397174367","mag":"2397174367","pmid":"https://pubmed.ncbi.nlm.nih.gov/16050420"},"language":"fr","primary_location":{"id":"pmid:16050420","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16050420","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":"Bulletin de la Societe belge d'ophtalmologie","raw_type":"Case Reports"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5110142072","display_name":"A.I. Benatiya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210134492","display_name":"Centre Hospitalier Universitaire Hassan II","ror":"https://ror.org/03m2nqg26","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210134492"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"A I Benatiya","raw_affiliation_strings":["Service d'Ophtalmologie, CHU Hassan II, F\u00e8s, Maroc. cherdoc@hotmail.com"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Ophtalmologie, CHU Hassan II, F\u00e8s, Maroc. cherdoc@hotmail.com","institution_ids":["https://openalex.org/I4210134492"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052860326","display_name":"M.A. Bouayed","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M A Bouayed","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032421310","display_name":"E. Touiza","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Touiza","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"K Daoudi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K Daoudi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073561041","display_name":"S. Bhalil","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Bhalil","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030468284","display_name":"I. Elmesbahi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I Elmesbahi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5086996185","display_name":"H Tahri","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H Tahri","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":94},"biblio":{"volume":null,"issue":"296","first_page":"57","last_page":"61"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9771000146865845,"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":0.9771000146865845,"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.007300000172108412,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"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":0.0038999998942017555,"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/tyrosinemia-type-ii","display_name":"tyrosinemia type II","score":0.9950000047683716},{"id":"https://openalex.org/keywords/richner-hanhart-syndrome","display_name":"Richner-Hanhart syndrome","score":0.996999979019165},{"id":"https://openalex.org/keywords/superficial-punctate-keratitis","display_name":"superficial punctate keratitis","score":0.8370000123977661},{"id":"https://openalex.org/keywords/corneal-dystrophy","display_name":"corneal dystrophy","score":0.9589999914169312},{"id":"https://openalex.org/keywords/palmoplantar-keratoderma","display_name":"palmoplantar keratoderma","score":0.9919999837875366},{"id":"https://openalex.org/keywords/autosomal-recessive-inborn-error-of-metabolism","display_name":"autosomal recessive inborn error of metabolism","score":0.8659999966621399},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.5669999718666077}],"concepts":[{"id":"https://openalex.org/C2781097277","wikidata":"https://www.wikidata.org/wiki/Q1122668","display_name":"Tyrosinemia","level":3,"score":0.9198838472366333},{"id":"https://openalex.org/C2779915019","wikidata":"https://www.wikidata.org/wiki/Q1640998","display_name":"Hyperkeratosis","level":2,"score":0.7596817016601562},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.708340048789978},{"id":"https://openalex.org/C2776165026","wikidata":"https://www.wikidata.org/wiki/Q188017","display_name":"Tyrosine","level":2,"score":0.6442925930023193},{"id":"https://openalex.org/C16005928","wikidata":"https://www.wikidata.org/wiki/Q171171","display_name":"Dermatology","level":1,"score":0.6418001651763916},{"id":"https://openalex.org/C2778560704","wikidata":"https://www.wikidata.org/wiki/Q757838","display_name":"Keratitis","level":2,"score":0.6385260820388794},{"id":"https://openalex.org/C2776491826","wikidata":"https://www.wikidata.org/wiki/Q7861685","display_name":"Tyrosine aminotransferase","level":4,"score":0.5655848383903503},{"id":"https://openalex.org/C2775964029","wikidata":"https://www.wikidata.org/wiki/Q2033138","display_name":"Angiokeratoma","level":2,"score":0.5206141471862793},{"id":"https://openalex.org/C2777017193","wikidata":"https://www.wikidata.org/wiki/Q4162411","display_name":"Dystrophy","level":2,"score":0.42071789503097534},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.4151417315006256},{"id":"https://openalex.org/C2780713498","wikidata":"https://www.wikidata.org/wiki/Q2897327","display_name":"Dyskeratosis","level":3,"score":0.41071659326553345},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.36963480710983276},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1358625292778015},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.10989660024642944},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.06616711616516113},{"id":"https://openalex.org/C132154277","wikidata":"https://www.wikidata.org/wiki/Q5381545","display_name":"Enzyme inducer","level":3,"score":0.0}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014443","descriptor_name":"Tyrosine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D020176","descriptor_name":"Tyrosinemias","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D020176","descriptor_name":"Tyrosinemias","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D020176","descriptor_name":"Tyrosinemias","qualifier_ui":"Q000178","qualifier_name":"diet therapy","is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:16050420","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16050420","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":"Bulletin de la Societe belge d'ophtalmologie","raw_type":"Case Reports"},{"id":"mag:2397174367","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/16050420","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"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/W2580036681","https://openalex.org/W100813695","https://openalex.org/W2050024492","https://openalex.org/W2134190581","https://openalex.org/W4250875905","https://openalex.org/W2401992471","https://openalex.org/W2419504240","https://openalex.org/W2062959333","https://openalex.org/W2001474688","https://openalex.org/W2049453436"],"abstract_inverted_index":{"Tyrosinemia":[0,81],"type":[1,82],"II":[2,83],"or":[3],"Richner-Hanhart":[4],"syndrome":[5],"is":[6,57,70,84,99,141],"a":[7,27,33,38,46],"rare":[8],"hereditary":[9],"disease":[10,120],"characterized":[11],"by":[12],"the":[13,24,52,102,133],"association":[14],"of":[15,26,51,55,78,107,115,127],"pseudoherpetiform":[16],"corneal":[17,39],"ulcerations":[18],"and":[19,37,68,104,109,136],"palmoplantar":[20,47],"hyperkeratosis.":[21,48],"We":[22],"report":[23],"case":[25],"12":[28],"year-old":[29],"young":[30],"man":[31],"presenting":[32],"superficial":[34],"punctate":[35],"keratitis":[36,129],"dystrophy":[40],"in":[41,94,124],"both":[42],"eyes,":[43],"associated":[44,142],"with":[45,72,143],"The":[49,97],"dosage":[50],"serum":[53,108],"level":[54,106],"tyrosine":[56,67,95,111],"meaningfully":[58],"raised":[59],"to":[60,90],"1236":[61],"micromol/l.":[62],"A":[63],"dietary":[64],"treatment":[65],"restraining":[66],"phenylalanine":[69],"started":[71],"favorable":[73],"results":[74],"after":[75],"an":[76,85,91],"evolution":[77],"6":[79],"months.":[80],"autosomal":[86],"recessive":[87],"disease,":[88],"due":[89],"enzymatic":[92],"deficit":[93],"aminotransferase.":[96],"diagnosis":[98],"based":[100],"on":[101,132],"clinic":[103],"high":[105],"urinary":[110,117],"as":[112,114,147],"well":[113],"its":[116],"metabolites.":[118],"This":[119],"must":[121],"be":[122],"suspected":[123],"all":[125],"cases":[126],"dentritic":[128],"not":[130],"reacting":[131],"antiviral":[134],"treatment,":[135],"more":[137],"especially":[138],"if":[139],"it":[140],"cutaneous":[144],"lesions":[145],"such":[146],"palmo-plantar":[148],"keratosis.":[149]},"counts_by_year":[{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}