{"id":"https://openalex.org/W4415055752","doi":"https://doi.org/10.1002/ccr3.71260","title":"Saccadic Eye Movement as a Harbinger of Gaucher's Disease in Children: A Case Report of Diagnostic Difficulty","display_name":"Saccadic Eye Movement as a Harbinger of Gaucher's Disease in Children: A Case Report of Diagnostic Difficulty","publication_year":2025,"publication_date":"2025-10-01","ids":{"openalex":"https://openalex.org/W4415055752","doi":"https://doi.org/10.1002/ccr3.71260","pmid":"https://pubmed.ncbi.nlm.nih.gov/41079809","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/12513804"},"language":"en","primary_location":{"id":"doi:10.1002/ccr3.71260","doi":"https://doi.org/10.1002/ccr3.71260","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ccr3.71260","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.71260","source":{"id":"https://openalex.org/S2737168579","display_name":"Clinical Case Reports","issn_l":"2050-0904","issn":["2050-0904"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-20","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Case Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.71260","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5075203203","display_name":"Ramesh Khadayat","orcid":"https://orcid.org/0000-0001-9067-1155","observed_orcids":["https://orcid.org/0000-0001-9067-1155"]},"institutions":[{"id":"https://openalex.org/I1330522730","display_name":"Patan Academy of Health Sciences","ror":"https://ror.org/02mphcg88","country_code":"NP","type":"education","lineage":["https://openalex.org/I1330522730"]}],"countries":["NP"],"is_corresponding":true,"raw_author_name":"Ramesh Khadayat","raw_affiliation_strings":["Patan Academy of Health Sciences, Lalitpur, Nepal"],"raw_orcid":"https://orcid.org/0000-0001-9067-1155","affiliations":[{"raw_affiliation_string":"Patan Academy of Health Sciences, Lalitpur, Nepal","institution_ids":["https://openalex.org/I1330522730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008886805","display_name":"Sucharita Tuladhar","orcid":"https://orcid.org/0000-0001-9174-4950","observed_orcids":["https://orcid.org/0000-0001-9174-4950"]},"institutions":[{"id":"https://openalex.org/I1330522730","display_name":"Patan Academy of Health Sciences","ror":"https://ror.org/02mphcg88","country_code":"NP","type":"education","lineage":["https://openalex.org/I1330522730"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Sucharita Tuladhar","raw_affiliation_strings":["Patan Academy of Health Sciences, Lalitpur, Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Patan Academy of Health Sciences, Lalitpur, Nepal","institution_ids":["https://openalex.org/I1330522730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5126171607","display_name":"Sri Ram K. C.","orcid":"https://orcid.org/0009-0008-4745-5316","observed_orcids":["https://orcid.org/0009-0008-4745-5316"]},"institutions":[{"id":"https://openalex.org/I1330522730","display_name":"Patan Academy of Health Sciences","ror":"https://ror.org/02mphcg88","country_code":"NP","type":"education","lineage":["https://openalex.org/I1330522730"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Sri Ram KC","raw_affiliation_strings":["Patan Academy of Health Sciences, Lalitpur, Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Patan Academy of Health Sciences, Lalitpur, Nepal","institution_ids":["https://openalex.org/I1330522730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5119945729","display_name":"Bijesh Shresth","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330522730","display_name":"Patan Academy of Health Sciences","ror":"https://ror.org/02mphcg88","country_code":"NP","type":"education","lineage":["https://openalex.org/I1330522730"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Bijesh Shresth","raw_affiliation_strings":["Patan Academy of Health Sciences, Lalitpur, Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Patan Academy of Health Sciences, Lalitpur, Nepal","institution_ids":["https://openalex.org/I1330522730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049679733","display_name":"Sailesh Kumar Shrestha","orcid":"https://orcid.org/0000-0001-7935-1206","observed_orcids":["https://orcid.org/0000-0001-7935-1206","https://orcid.org/0009-0000-6456-3871"]},"institutions":[{"id":"https://openalex.org/I1330522730","display_name":"Patan Academy of Health Sciences","ror":"https://ror.org/02mphcg88","country_code":"NP","type":"education","lineage":["https://openalex.org/I1330522730"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Sailesh Shrestha","raw_affiliation_strings":["Patan Academy of Health Sciences, Lalitpur, Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Patan Academy of Health Sciences, Lalitpur, Nepal","institution_ids":["https://openalex.org/I1330522730"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Tilak Gautam","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330522730","display_name":"Patan Academy of Health Sciences","ror":"https://ror.org/02mphcg88","country_code":"NP","type":"education","lineage":["https://openalex.org/I1330522730"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Tilak Gautam","raw_affiliation_strings":["Patan Academy of Health Sciences, Lalitpur, Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Patan Academy of Health Sciences, Lalitpur, Nepal","institution_ids":["https://openalex.org/I1330522730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108980894","display_name":"Ramesh Basnet","orcid":"https://orcid.org/0009-0008-7602-5235","observed_orcids":["https://orcid.org/0009-0008-7602-5235"]},"institutions":[{"id":"https://openalex.org/I1330522730","display_name":"Patan Academy of Health Sciences","ror":"https://ror.org/02mphcg88","country_code":"NP","type":"education","lineage":["https://openalex.org/I1330522730"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Ramesh Basnet","raw_affiliation_strings":["Patan Academy of Health Sciences, Lalitpur, Nepal"],"raw_orcid":"https://orcid.org/0009-0008-7602-5235","affiliations":[{"raw_affiliation_string":"Patan Academy of Health Sciences, Lalitpur, Nepal","institution_ids":["https://openalex.org/I1330522730"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077664449","display_name":"Shreya Thapa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330522730","display_name":"Patan Academy of Health Sciences","ror":"https://ror.org/02mphcg88","country_code":"NP","type":"education","lineage":["https://openalex.org/I1330522730"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Shreya Thapa","raw_affiliation_strings":["Patan Academy of Health Sciences, Lalitpur, Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Patan Academy of Health Sciences, Lalitpur, Nepal","institution_ids":["https://openalex.org/I1330522730"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5092080203","display_name":"Dipendra Magrati","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1330522730","display_name":"Patan Academy of Health Sciences","ror":"https://ror.org/02mphcg88","country_code":"NP","type":"education","lineage":["https://openalex.org/I1330522730"]}],"countries":["NP"],"is_corresponding":false,"raw_author_name":"Dipendra Magrati","raw_affiliation_strings":["Patan Academy of Health Sciences, Lalitpur, Nepal"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Patan Academy of Health Sciences, Lalitpur, Nepal","institution_ids":["https://openalex.org/I1330522730"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5075203203"],"corresponding_institution_ids":["https://openalex.org/I1330522730"],"apc_list":{"value":1820,"currency":"USD","value_usd":1820},"apc_paid":{"value":1820,"currency":"USD","value_usd":1820},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"13","issue":"10","first_page":"e71260","last_page":"e71260"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9984999895095825,"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"}},"topics":[{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9984999895095825,"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.00139999995008111,"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":9.999999747378752e-05,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/gaucher-disease-type-3","display_name":"Gaucher disease type 3","score":0.9950000047683716},{"id":"https://openalex.org/keywords/saccades","display_name":"saccades","score":0.9380000233650208},{"id":"https://openalex.org/keywords/early-diagnosis","display_name":"early diagnosis","score":0.8059999942779541},{"id":"https://openalex.org/keywords/pediatric-neurology","display_name":"pediatric neurology","score":0.6069999933242798},{"id":"https://openalex.org/keywords/anemia","display_name":"anemia","score":0.6320000290870667},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.6370000243186951}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.850600004196167},{"id":"https://openalex.org/C153050134","wikidata":"https://www.wikidata.org/wiki/Q760256","display_name":"Eye movement","level":2,"score":0.758899986743927},{"id":"https://openalex.org/C11054436","wikidata":"https://www.wikidata.org/wiki/Q7396580","display_name":"Saccadic masking","level":3,"score":0.7246000170707703},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.5576000213623047},{"id":"https://openalex.org/C2779916870","wikidata":"https://www.wikidata.org/wiki/Q14467155","display_name":"Gaze","level":2,"score":0.5490000247955322},{"id":"https://openalex.org/C2988251480","wikidata":"https://www.wikidata.org/wiki/Q369503","display_name":"Saccadic eye movement","level":4,"score":0.4537000060081482},{"id":"https://openalex.org/C56461940","wikidata":"https://www.wikidata.org/wiki/Q970687","display_name":"Eye tracking","level":2,"score":0.4309000074863434},{"id":"https://openalex.org/C2908845642","wikidata":"https://www.wikidata.org/wiki/Q760256","display_name":"Ocular Motility Disorders","level":3,"score":0.42879998683929443},{"id":"https://openalex.org/C119767625","wikidata":"https://www.wikidata.org/wiki/Q618211","display_name":"Optometry","level":1,"score":0.4221000075340271},{"id":"https://openalex.org/C2776148792","wikidata":"https://www.wikidata.org/wiki/Q3041498","display_name":"Eye disease","level":2,"score":0.3935000002384186},{"id":"https://openalex.org/C99508421","wikidata":"https://www.wikidata.org/wiki/Q2678675","display_name":"Physical medicine and rehabilitation","level":1,"score":0.3917999863624573},{"id":"https://openalex.org/C2778261627","wikidata":"https://www.wikidata.org/wiki/Q2608695","display_name":"Movement disorders","level":3,"score":0.38920000195503235},{"id":"https://openalex.org/C2779524336","wikidata":"https://www.wikidata.org/wiki/Q369503","display_name":"Saccade","level":3,"score":0.3366999924182892},{"id":"https://openalex.org/C2779213384","wikidata":"https://www.wikidata.org/wiki/Q211402","display_name":"Rapid eye movement sleep","level":3,"score":0.3068000078201294},{"id":"https://openalex.org/C3018963737","wikidata":"https://www.wikidata.org/wiki/Q3339235","display_name":"Neurologic disease","level":3,"score":0.3061000108718872},{"id":"https://openalex.org/C548259974","wikidata":"https://www.wikidata.org/wiki/Q569965","display_name":"Audiology","level":1,"score":0.2727000117301941},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.2619999945163727}],"mesh":[],"locations_count":6,"locations":[{"id":"doi:10.1002/ccr3.71260","doi":"https://doi.org/10.1002/ccr3.71260","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ccr3.71260","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.71260","source":{"id":"https://openalex.org/S2737168579","display_name":"Clinical Case Reports","issn_l":"2050-0904","issn":["2050-0904"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-20","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Case Reports","raw_type":"journal-article"},{"id":"doi:10.22541/au.173736597.71711117/v1","doi":"https://doi.org/10.22541/au.173736597.71711117/v1","is_oa":false,"landing_page_url":"https://doi.org/10.22541/au.173736597.71711117/v1","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"posted-content"},{"id":"pmh:oai:europepmc.org:11321674","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/12513804","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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":null,"raw_type":"Text"},{"id":"pmid:41079809","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/41079809","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":"Clinical case reports","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:12513804","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC12513804/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clin Case Rep","raw_type":"Text"},{"id":"pmh:oai:doaj.org/article:fcea71917b36457e861b5350a272dbdb","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/fcea71917b36457e861b5350a272dbdb","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical Case Reports, Vol 13, Iss 10, Pp n/a-n/a (2025)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1002/ccr3.71260","doi":"https://doi.org/10.1002/ccr3.71260","is_oa":true,"landing_page_url":"https://doi.org/10.1002/ccr3.71260","pdf_url":"https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ccr3.71260","source":{"id":"https://openalex.org/S2737168579","display_name":"Clinical Case Reports","issn_l":"2050-0904","issn":["2050-0904"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-20","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Clinical Case Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9789000153541565,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4415055752.pdf","grobid_xml":"https://content.openalex.org/works/W4415055752.grobid-xml"},"referenced_works_count":15,"referenced_works":["https://openalex.org/W60520694","https://openalex.org/W2057322206","https://openalex.org/W2075627172","https://openalex.org/W2088089177","https://openalex.org/W2161236662","https://openalex.org/W2174053673","https://openalex.org/W2593191965","https://openalex.org/W2782711662","https://openalex.org/W2790900404","https://openalex.org/W2804630490","https://openalex.org/W2901758814","https://openalex.org/W2988692321","https://openalex.org/W3200552876","https://openalex.org/W4200025161","https://openalex.org/W4221094910"],"related_works":["https://openalex.org/W4406624541","https://openalex.org/W2094294744","https://openalex.org/W2988692321","https://openalex.org/W2024853542","https://openalex.org/W2057322206","https://openalex.org/W1963541887","https://openalex.org/W7024270563","https://openalex.org/W3111481932","https://openalex.org/W2043231092","https://openalex.org/W4401580981"],"abstract_inverted_index":{"Gaucher":[0],"disease":[1],"type":[2],"3":[3],"(GD3)":[4],"is":[5],"a":[6],"rare":[7],"disorder":[8],"causing":[9],"neurological":[10],"decline,":[11],"including":[12],"saccadic":[13],"eye":[14,37],"movement":[15,38],"defects.":[16],"A":[17],"2-year-old":[18],"boy,":[19],"initially":[20],"treated":[21],"for":[22,31],"anemia,":[23],"later":[24],"developed":[25],"gaze":[26],"slowness,":[27],"highlighting":[28],"the":[29],"need":[30],"careful":[32],"assessment":[33],"in":[34],"children":[35],"with":[36],"issues.":[39],"Early":[40],"diagnosis":[41],"and":[42],"management":[43],"are":[44],"crucial":[45],"despite":[46],"costly":[47],"treatment.":[48]},"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2025-10-11T00:00:00"}
