{"id":"https://openalex.org/W1577438166","doi":null,"title":"Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.","display_name":"Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean.","publication_year":1993,"publication_date":"1993-08-01","ids":{"openalex":"https://openalex.org/W1577438166","mag":"1577438166","pmid":"https://pubmed.ncbi.nlm.nih.gov/8392291","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1682365"},"language":"en","primary_location":{"id":"pmh:oai:europepmc.org:386140","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC1682365","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"http://europepmc.org/pmc/articles/PMC1682365","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5112723505","display_name":"C Morin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4405283524","display_name":"H\u00f4pital de Chicoutimi","ror":"https://ror.org/01thfx675","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801902503","https://openalex.org/I4210094787","https://openalex.org/I4210139015","https://openalex.org/I4405279980","https://openalex.org/I4405283524"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"C Morin","raw_affiliation_strings":["D\u00e9partement de P\u00e9diatrie, H\u00f4pital de Chicoutimi, Qu\u00e9bec"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"D\u00e9partement de P\u00e9diatrie, H\u00f4pital de Chicoutimi, Qu\u00e9bec","institution_ids":["https://openalex.org/I4405283524"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049088657","display_name":"Grant A. Mitchell","orcid":"https://orcid.org/0000-0002-0804-3676","observed_orcids":["https://orcid.org/0000-0002-0804-3676"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Mitchell","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"J Larochelle","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Larochelle","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042131851","display_name":"Marie A. Lambert","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Lambert","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105687750","display_name":"H\u00e9l\u00e8ne Ogier de Baulny","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H Ogier","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111871872","display_name":"B. H. Robinson","orcid":"https://orcid.org/0000-0002-3454-1724","observed_orcids":["https://orcid.org/0000-0002-3454-1724"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B H Robinson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5072686875","display_name":"Marc De Braekeleer","orcid":"https://orcid.org/0000-0002-5165-2207","observed_orcids":["https://orcid.org/0000-0002-5165-2207"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M De Braekeleer","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":0.4631,"has_fulltext":false,"cited_by_count":100,"citation_normalized_percentile":{"value":0.50311665,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"53","issue":"2","first_page":"488","last_page":"96"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9854000210762024,"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":0.9854000210762024,"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":0.012600000016391277,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.00039999998989515007,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/cytochrome-c-oxidase-deficiency","display_name":"cytochrome c oxidase deficiency","score":0.9919999837875366},{"id":"https://openalex.org/keywords/leigh-syndrome","display_name":"Leigh syndrome","score":0.8339999914169312},{"id":"https://openalex.org/keywords/lactic-acidosis","display_name":"lactic acidosis","score":0.9610000252723694},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.8560000061988831},{"id":"https://openalex.org/keywords/founder-effect","display_name":"founder effect","score":0.9950000047683716},{"id":"https://openalex.org/keywords/saguenay-lac-saint-jean","display_name":"Saguenay-Lac-Saint-Jean","score":0.9520000219345093},{"id":"https://openalex.org/keywords/carrier-frequency","display_name":"carrier frequency","score":0.6320000290870667},{"id":"https://openalex.org/keywords/microvesicular-steatosis","display_name":"microvesicular steatosis","score":0.753000020980835},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.6949999928474426},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.7279999852180481},{"id":"https://openalex.org/keywords/clinical-severity","display_name":"clinical severity","score":0.4790000021457672},{"id":"https://openalex.org/keywords/metabolic-acidosis","display_name":"metabolic acidosis","score":0.5299999713897705}],"concepts":[{"id":"https://openalex.org/C2778621155","wikidata":"https://www.wikidata.org/wiki/Q576349","display_name":"Encephalopathy","level":2,"score":0.4710557162761688},{"id":"https://openalex.org/C2780317664","wikidata":"https://www.wikidata.org/wiki/Q1500373","display_name":"Lactic acidosis","level":2,"score":0.4579680263996124},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4548608958721161},{"id":"https://openalex.org/C195054827","wikidata":"https://www.wikidata.org/wiki/Q504568","display_name":"Founder effect","level":5,"score":0.4315090775489807},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.4269930124282837},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4219851493835449},{"id":"https://openalex.org/C2779246250","wikidata":"https://www.wikidata.org/wiki/Q1598200","display_name":"Metabolic acidosis","level":2,"score":0.41988372802734375},{"id":"https://openalex.org/C42407357","wikidata":"https://www.wikidata.org/wiki/Q521","display_name":"Physiology","level":1,"score":0.4161328673362732},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.41536635160446167},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.3709307610988617},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3410074710845947},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2787872552871704},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.14764347672462463},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.10629507899284363},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000140","descriptor_name":"Acidosis, Lactic","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005234","descriptor_name":"Fatty Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005602","descriptor_name":"France","qualifier_ui":"Q000208","qualifier_name":"ethnology","is_major_topic":false},{"descriptor_ui":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005808","descriptor_name":"Genes, Recessive","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":"D007888","descriptor_name":"Leigh Disease","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":true},{"descriptor_ui":"D007888","descriptor_name":"Leigh Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007888","descriptor_name":"Leigh Disease","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008930","descriptor_name":"Mitochondria, Liver","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D009123","descriptor_name":"Muscle Hypotonia","qualifier_ui":"Q000201","qualifier_name":"enzymology","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011792","descriptor_name":"Quebec","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D030401","descriptor_name":"Cytochrome-c Oxidase Deficiency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":3,"locations":[{"id":"pmh:oai:europepmc.org:386140","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC1682365","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},{"id":"pmid:8392291","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8392291","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"mag:1577438166","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8392291","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":{"id":"pmh:oai:europepmc.org:386140","doi":null,"is_oa":true,"landing_page_url":"http://europepmc.org/pmc/articles/PMC1682365","pdf_url":null,"source":{"id":"https://openalex.org/S4306400806","display_name":"Europe PMC (PubMed Central)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1303153112","host_organization_name":"European Bioinformatics Institute","host_organization_lineage":["https://openalex.org/I1303153112"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"","raw_type":"Text"},"sustainable_development_goals":[{"score":0.98580002784729,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W23197547","https://openalex.org/W60213247","https://openalex.org/W1505663364","https://openalex.org/W1542972593","https://openalex.org/W1963598779","https://openalex.org/W1971692898","https://openalex.org/W1977478781","https://openalex.org/W1988590172","https://openalex.org/W1988737464","https://openalex.org/W1989432338","https://openalex.org/W1990841593","https://openalex.org/W1991529758","https://openalex.org/W1993816176","https://openalex.org/W2009649445","https://openalex.org/W2010756313","https://openalex.org/W2034016727","https://openalex.org/W2040154491","https://openalex.org/W2072802803","https://openalex.org/W2078939558","https://openalex.org/W2115765138","https://openalex.org/W3021137566"],"related_works":["https://openalex.org/W2032664421","https://openalex.org/W2025618361","https://openalex.org/W2018755817","https://openalex.org/W2034016727","https://openalex.org/W60213247","https://openalex.org/W7098161530","https://openalex.org/W2066164646","https://openalex.org/W1977478781","https://openalex.org/W2155886301","https://openalex.org/W2072802803"],"abstract_inverted_index":{"Thirty-four":[0],"children":[1,76,164],"with":[2,37],"lactic":[3],"acidosis":[4],"and":[5,54,56,77,157,177,186,192],"Leigh":[6,190],"encephalopathy":[7],"due":[8],"to":[9,98,148],"cytochrome":[10],"C":[11],"oxidase":[12],"(COX)":[13],"deficiency":[14,131],"distributed":[15],"in":[16,23,27,65,113,132,166,200],"28":[17],"families":[18],"have":[19],"recently":[20],"been":[21],"identified":[22,94],"northeastern":[24,133],"Quebec,":[25],"particularly":[26],"the":[28,57,69,74,108,114,123,196],"Saguenay-Lac-Saint-Jean":[29],"(SLSJ)":[30],"region.":[31],"The":[32,44,87,172],"segregation":[33],"analysis":[34],"was":[35,46,60,111,208],"consistent":[36],"an":[38],"autosomal":[39],"recessive":[40],"mode":[41],"of":[42,71,73,90,100,125,141,168,195,214,220],"inheritance.":[43],"incidence":[45],"estimated":[47,61],"at":[48,62],"1/2,063":[49],"live":[50],"births":[51],"between":[52],"1979":[53],"1990,":[55],"carrier":[58],"rate":[59],"1/23":[63],"inhabitants":[64],"SLSJ.":[66],"In":[67],"SLSJ,":[68],"places":[70],"origin":[72],"COX-deficient":[75,109,143],"their":[78],"parents":[79],"did":[80],"not":[81],"show":[82],"a":[83,126,217],"clustered":[84],"nonuniform":[85],"distribution.":[86],"genealogical":[88],"reconstruction":[89],"54":[91],"obligate":[92],"carriers":[93],"26":[95],"ancestors":[96],"common":[97],"all":[99,201],"them.":[101],"Twenty-two":[102],"were":[103,161,198],"17th-century":[104],"Europeans,":[105],"suggesting":[106],"that":[107],"gene":[110],"introduced":[112],"French-Canadian":[115],"population":[116],"by":[117],"early":[118],"settlers.":[119],"These":[120],"results":[121],"support":[122],"hypothesis":[124],"founder":[127],"effect":[128],"for":[129,139,204],"COX":[130],"Quebec.":[134],"Clinical":[135],"findings":[136],"are":[137],"reported":[138],"15":[140],"these":[142],"patients,":[144],"age":[145],"6":[146],"mo":[147],"11":[149],"years.":[150],"Moderate":[151],"developmental":[152],"delay,":[153],"hypotonia,":[154],"ataxia,":[155],"strabismus,":[156],"mild":[158],"facial":[159],"dysmorphism":[160],"frequent.":[162],"Eleven":[163],"died":[165],"episodes":[167],"fulminant":[169],"metabolic":[170],"acidosis.":[171],"patients":[173,203,215],"had":[174],"elevated":[175],"blood":[176,183,188],"cerebrospinal":[178],"fluid":[179],"lactate":[180],"levels,":[181,185],"decreased":[182],"bicarbonate":[184],"normal":[187],"pH.":[189],"disease":[191],"microvesicular":[193],"steatosis":[194],"liver":[197],"present":[199],"affected":[202],"whom":[205],"postmortem":[206],"examination":[207],"performed.":[209],"This":[210],"biochemically":[211],"uniform":[212],"group":[213],"showed":[216],"wide":[218],"range":[219],"clinical":[221],"severity.":[222]},"counts_by_year":[{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":5},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":6},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":8},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":4},{"year":2012,"cited_by_count":4}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}