{"id":"https://openalex.org/W91004041","doi":null,"title":"Polysaccharide storage myopathy--case report and literature review.","display_name":"Polysaccharide storage myopathy--case report and literature review.","publication_year":2005,"publication_date":"2005-05-01","ids":{"openalex":"https://openalex.org/W91004041","mag":"91004041","pmid":"https://pubmed.ncbi.nlm.nih.gov/15943164"},"language":"en","primary_location":{"id":"pmid:15943164","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15943164","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 neuropathology","raw_type":"Case Reports"},"volume":null,"type":"article","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/A5111696437","display_name":"M. Imed Miladi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210165772","display_name":"Hopital Universitaire Habib Bourguiba","ror":"https://ror.org/052g5ww90","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210165772"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"M I Miladi","raw_affiliation_strings":["Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurology, Habib Bourguiba University Hospital, Sfax, Tunisia","institution_ids":["https://openalex.org/I4210165772"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038612887","display_name":"Imed Feki","orcid":"https://orcid.org/0000-0001-7304-757X","observed_orcids":["https://orcid.org/0000-0001-7304-757X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"I Feki","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5049921025","display_name":"Fakher Choyakh","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F Choyakh","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091170925","display_name":"Mohamed Ben Hmida","orcid":"https://orcid.org/0000-0002-0997-6136","observed_orcids":["https://orcid.org/0000-0002-0997-6136"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Ben Hmida","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5084768412","display_name":"N. Zouari","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N Zouari","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5018531632","display_name":"Chokri Mhiri","orcid":"https://orcid.org/0000-0001-7591-6994","observed_orcids":["https://orcid.org/0000-0001-7591-6994"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Mhiri","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":0.2028,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.56423098,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"24","issue":"3","first_page":"126","last_page":"32"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.9901999831199646,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.9901999831199646,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"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/T10441","display_name":"Muscle Physiology and Disorders","score":0.0015999999595806003,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.00139999995008111,"subfield":{"id":"https://openalex.org/subfields/2737","display_name":"Physiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/polysaccharide-storage-myopathy","display_name":"polysaccharide storage myopathy","score":0.9850000143051147},{"id":"https://openalex.org/keywords/glycogen-storage-disease-type-v","display_name":"glycogen storage disease type V","score":0.6430000066757202},{"id":"https://openalex.org/keywords/vacuolar-myopathy","display_name":"vacuolar myopathy","score":0.921999990940094},{"id":"https://openalex.org/keywords/muscle-biopsy","display_name":"muscle biopsy","score":0.609000027179718},{"id":"https://openalex.org/keywords/periodic-acid-schiff-staining","display_name":"PAS staining","score":0.6639999747276306},{"id":"https://openalex.org/keywords/diastase-resistance","display_name":"diastase resistance","score":0.9580000042915344},{"id":"https://openalex.org/keywords/enzyme-deficiency","display_name":"enzyme deficiency","score":0.45899999141693115},{"id":"https://openalex.org/keywords/pathogenesis","display_name":"pathogenesis","score":0.4449999928474426}],"concepts":[{"id":"https://openalex.org/C2779764123","wikidata":"https://www.wikidata.org/wiki/Q7972881","display_name":"Wasting","level":2,"score":0.789710521697998},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.7754191756248474},{"id":"https://openalex.org/C2778616394","wikidata":"https://www.wikidata.org/wiki/Q474959","display_name":"myalgia","level":2,"score":0.6756532192230225},{"id":"https://openalex.org/C2779999465","wikidata":"https://www.wikidata.org/wiki/Q2094702","display_name":"Muscle biopsy","level":3,"score":0.5757673978805542},{"id":"https://openalex.org/C2780596822","wikidata":"https://www.wikidata.org/wiki/Q623289","display_name":"Dysphagia","level":2,"score":0.5670248866081238},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.5239548683166504},{"id":"https://openalex.org/C2780247198","wikidata":"https://www.wikidata.org/wiki/Q633403","display_name":"Weakness","level":2,"score":0.49650365114212036},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4205942451953888},{"id":"https://openalex.org/C2775934546","wikidata":"https://www.wikidata.org/wiki/Q179991","display_name":"Biopsy","level":2,"score":0.4173700511455536},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.308815062046051},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.24457243084907532},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.19083932042121887}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000687","descriptor_name":"Amylopectin","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D001706","descriptor_name":"Biopsy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002479","descriptor_name":"Inclusion Bodies","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D002479","descriptor_name":"Inclusion Bodies","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002479","descriptor_name":"Inclusion Bodies","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004798","descriptor_name":"Enzymes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D009202","descriptor_name":"Cardiomyopathies","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D011134","descriptor_name":"Polysaccharides","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D015061","descriptor_name":"1,4-alpha-Glucan Branching Enzyme","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018450","descriptor_name":"Disease Progression","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D018485","descriptor_name":"Muscle Fibers, Skeletal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018485","descriptor_name":"Muscle Fibers, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D018485","descriptor_name":"Muscle Fibers, Skeletal","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D018908","descriptor_name":"Muscle Weakness","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D018908","descriptor_name":"Muscle Weakness","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D018908","descriptor_name":"Muscle Weakness","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D046529","descriptor_name":"Microscopy, Electron, Transmission","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:15943164","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15943164","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 neuropathology","raw_type":"Case Reports"},{"id":"mag:91004041","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/15943164","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":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W1693074342","https://openalex.org/W7023915048","https://openalex.org/W1990943617","https://openalex.org/W2411333749","https://openalex.org/W78020984","https://openalex.org/W1989688438","https://openalex.org/W256123342","https://openalex.org/W1155694456","https://openalex.org/W2089550290","https://openalex.org/W2003378073"],"abstract_inverted_index":{"Polysaccharide":[0],"myopathy":[1,18,57],"is":[2,19,115],"a":[3,23,55],"rare":[4],"form":[5,16],"of":[6,13,17,35,47,60,77,94,120],"storage":[7],"muscular":[8],"disorder.":[9],"The":[10],"clinical":[11],"picture":[12],"this":[14],"particular":[15],"unspecific.":[20],"We":[21],"report":[22],"62-year-old":[24],"woman":[25],"with":[26,58],"late-onset":[27],"progressive":[28],"weakness":[29],"and":[30,39,68,80,112],"wasting,":[31],"affecting":[32],"proximal":[33],"muscles":[34],"the":[36,40,73,100,105],"four":[37],"limbs":[38],"girdles.":[41],"No":[42,87],"myalgia,":[43],"dysphagia":[44],"nor":[45],"symptoms":[46],"cardiac":[48],"failure":[49],"were":[50,75],"observed.":[51],"Muscle":[52],"biopsy":[53],"revealed":[54],"vacuolar":[56],"accumulation":[59,122],"amylopectin-like":[61],"polysaccharide.":[62],"This":[63],"material":[64,82],"was":[65,90,97],"strongly":[66],"PAS-positive":[67],"diastase-resistant.":[69],"At":[70],"electron":[71],"microscopy,":[72],"deposits":[74],"composed":[76],"non-membrane-bound":[78],"filamentous":[79],"granular":[81],"surrounded":[83],"by":[84],"numerous":[85],"mitochondria.":[86],"enzyme":[88],"deficiency":[89],"found.":[91],"Clinical":[92],"presentation":[93],"our":[95],"patient":[96],"similar":[98],"to":[99],"16":[101],"cases":[102],"reported":[103],"in":[104],"literature.":[106],"She":[107],"did":[108],"not":[109],"have":[110],"myocardiopathy":[111],"her":[113],"survival":[114],"much":[116],"longer.":[117],"Hypothetic":[118],"mechanisms":[119],"polysaccharide":[121],"are":[123],"reviewed.":[124]},"counts_by_year":[{"year":2015,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
