{"id":"https://openalex.org/W2098544265","doi":null,"title":"Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.","display_name":"Glycogen storage disease-like phenotype with central nervous system involvement in a PGM1-CDG patient.","publication_year":2014,"publication_date":"2014-01-01","ids":{"openalex":"https://openalex.org/W2098544265","mag":"2098544265","pmid":"https://pubmed.ncbi.nlm.nih.gov/24878975"},"language":"en","primary_location":{"id":"pmid:24878975","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24878975","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":"Neuro endocrinology letters","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/A5053636227","display_name":"Nina Ondru\u0161kov\u00e1","orcid":"https://orcid.org/0000-0001-9632-3231","observed_orcids":["https://orcid.org/0000-0001-9632-3231"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Nina Ondruskova","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034969299","display_name":"Tom\u00e1\u0161 Honz\u00edk","orcid":"https://orcid.org/0000-0003-4300-2519","observed_orcids":["https://orcid.org/0000-0003-4300-2519"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Tomas Honzik","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001332600","display_name":"Al\u017eb\u011bta Vondr\u00e1\u010dkov\u00e1","orcid":"https://orcid.org/0000-0003-0954-703X","observed_orcids":["https://orcid.org/0000-0003-0954-703X"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Alzbeta Vondrackova","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063835245","display_name":"Mark\u00e9ta Tesa\u0159ov\u00e1","orcid":"https://orcid.org/0000-0002-5200-7365","observed_orcids":["https://orcid.org/0000-0002-5200-7365"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Marketa Tesarova","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033861784","display_name":"J Zeman","orcid":"https://orcid.org/0000-0002-2678-7919","observed_orcids":["https://orcid.org/0000-0002-2678-7919"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Jiri Zeman","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5069582545","display_name":"Hana Hans\u00edkov\u00e1","orcid":"https://orcid.org/0000-0002-2734-225X","observed_orcids":["https://orcid.org/0000-0002-2734-225X","https://orcid.org/0000-0002-8962-1975"]},"institutions":[{"id":"https://openalex.org/I21250087","display_name":"Charles University","ror":"https://ror.org/024d6js02","country_code":"CZ","type":"education","lineage":["https://openalex.org/I21250087"]},{"id":"https://openalex.org/I4210162037","display_name":"General University Hospital in Prague","ror":"https://ror.org/04yg23125","country_code":"CZ","type":"healthcare","lineage":["https://openalex.org/I4210162037"]}],"countries":["CZ"],"is_corresponding":false,"raw_author_name":"Hana Hansikova","raw_affiliation_strings":["Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic","institution_ids":["https://openalex.org/I21250087","https://openalex.org/I4210162037"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.9918,"has_fulltext":false,"cited_by_count":35,"citation_normalized_percentile":{"value":0.67427551,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"35","issue":"2","first_page":"137","last_page":"41"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.9868000149726868,"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"}},"topics":[{"id":"https://openalex.org/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.9868000149726868,"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":0.008899999782443047,"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.0035000001080334187,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-disorders-of-glycosylation","display_name":"congenital disorders of glycosylation","score":0.9599999785423279},{"id":"https://openalex.org/keywords/n-glycosylation-defects","display_name":"N-glycosylation defects","score":0.8709999918937683},{"id":"https://openalex.org/keywords/central-nervous-system-involvement","display_name":"central nervous system involvement","score":0.7789999842643738},{"id":"https://openalex.org/keywords/neurological-deficit","display_name":"neurological deficit","score":0.8640000224113464},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.7369999885559082},{"id":"https://openalex.org/keywords/liver-disease","display_name":"liver disease","score":0.6100000143051147},{"id":"https://openalex.org/keywords/myopathy","display_name":"myopathy","score":0.6930000185966492},{"id":"https://openalex.org/keywords/hypoglycemia","display_name":"hypoglycemia","score":0.7419999837875366},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.7979999780654907}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6161543726921082},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.6158286333084106},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.5811187624931335},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5553393959999084},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.48526450991630554},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.32594114542007446},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3099328875541687},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.285835862159729},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.2831532061100006},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2778412103652954},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.21883365511894226}],"mesh":[{"descriptor_ui":"D002490","descriptor_name":"Central Nervous System","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006008","descriptor_name":"Glycogen Storage Disease","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":true},{"descriptor_ui":"D006008","descriptor_name":"Glycogen Storage Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000150","qualifier_name":"complications","is_major_topic":false},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010733","descriptor_name":"Phosphoglucomutase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:24878975","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24878975","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":"Neuro endocrinology letters","raw_type":"Case Reports"},{"id":"mag:2098544265","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/24878975","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":0.9789000153541565}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W1775749144","https://openalex.org/W1971835681","https://openalex.org/W1985413330","https://openalex.org/W1994089342","https://openalex.org/W1999425810","https://openalex.org/W2014138071","https://openalex.org/W2022472106","https://openalex.org/W2027313746","https://openalex.org/W2057321596","https://openalex.org/W2059145105","https://openalex.org/W2065014515","https://openalex.org/W2072257556","https://openalex.org/W2076605880","https://openalex.org/W2080039356","https://openalex.org/W2101740849","https://openalex.org/W2108243420","https://openalex.org/W2137886330","https://openalex.org/W2169243280","https://openalex.org/W2172118729","https://openalex.org/W4252701774"],"related_works":["https://openalex.org/W2065014515","https://openalex.org/W847121900","https://openalex.org/W3043538082","https://openalex.org/W2805368157","https://openalex.org/W4415606397","https://openalex.org/W4365135456","https://openalex.org/W2792736345","https://openalex.org/W2888205297","https://openalex.org/W4319996833","https://openalex.org/W2062355079"],"abstract_inverted_index":{"OBJECTIVES:":[0],"A":[1],"10-year-old":[2],"boy":[3],"presented":[4],"with":[5,165,204],"cleft":[6],"palate,":[7],"hepatopathy,":[8],"cholecystolithiasis,":[9],"myopathy,":[10],"coagulopathy,":[11],"hyperlipidemia,":[12],"hypoglycemia,":[13],"hyperuricemia,":[14],"short":[15],"stature,":[16],"obesity,":[17],"hypothyroidism,":[18],"microcephaly":[19],"and":[20,59,83,88,109,147],"mild":[21,191],"intellectual":[22],"disability.":[23],"The":[24,46],"multi-systemic":[25],"manifestation":[26],"involving":[27],"certain":[28],"distinct":[29],"clinical":[30,216],"features":[31],"prompted":[32],"us":[33],"to":[34,98,125,170,174,212],"search":[35],"for":[36,50],"a":[37,112,166,190],"subtype":[38],"of":[39,42,56,68,76,90,106,114,122,129,134,140],"congenital":[40],"disorders":[41],"glycosylation":[43,167],"(CDG).":[44],"METHODS:":[45],"patient":[47,164],"was":[48,71,131,152,181,209],"screened":[49],"CDG":[51],"by":[52,73,154],"examining":[53],"the":[54,100,117,138,161,175,201,215],"distribution":[55],"transferrin":[57],"(TRF)":[58],"apolipoprotein":[60],"C-III":[61],"(ApoC-III)":[62],"sialylated":[63],"isoforms":[64],"using":[65],"isoelectric":[66],"focusing":[67],"serum.":[69],"This":[70],"followed":[72],"spectrophotometric":[74],"measurement":[75],"phosphoglucomutase":[77],"1":[78],"(PGM1)":[79],"activity":[80,121],"in":[81,116,155,183,218,225,228],"fibroblasts":[82],"molecular":[84],"analysis":[85],"including":[86],"sequencing":[87],"PCR-RFLP":[89],"PGM1":[91,123,135,171],"gene.":[92],"Selected":[93],"bioinformatics":[94],"tools":[95],"were":[96],"used":[97],"evaluate":[99],"data.":[101],"RESULTS:":[102],"Increased":[103],"relative":[104],"levels":[105],"di-,":[107],"mono-":[108],"asialotransferrin":[110],"reflected":[111],"defect":[113],"N-glycosylation":[115],"patient.":[118,185,230],"Markedly":[119],"decreased":[120],"corresponding":[124],"less":[126],"than":[127],"5%":[128],"control\u00b4s":[130],"found.":[132],"Sequencing":[133],"gene":[136],"revealed":[137],"presence":[139],"two":[141],"heterozygous":[142],"missense":[143],"mutations":[144],"c.1010C>T":[145],"(p.T337M)":[146],"c.1508G>A":[148],"(p.R503Q),":[149],"whose":[150],"pathogenicity":[151],"confirmed":[153],"silico":[156],"analysis.":[157],"CONCLUSION:":[158],"We":[159],"report":[160],"first":[162],"Czech":[163],"disorder":[168],"due":[169],"deficiency.":[172],"Compared":[173],"described":[176],"cases,":[177],"no":[178],"dilated":[179],"cardiomyopathy":[180],"noted":[182],"our":[184,229],"However,":[186],"he":[187],"suffered":[188],"from":[189],"neurological":[192],"impairment,":[193],"which":[194,208],"is":[195],"an":[196],"uncommon":[197],"feature":[198],"that":[199],"extends":[200],"phenotype":[202],"associated":[203],"PGM1-CDG.":[205],"Lactose-rich":[206],"diet,":[207],"previously":[210],"reported":[211],"have":[213],"ameliorated":[214],"symptoms":[217],"some":[219],"PGM1-CDG":[220],"patients,":[221],"did":[222],"not":[223],"result":[224],"any":[226],"improvement":[227]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":6},{"year":2019,"cited_by_count":5},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":3},{"year":2014,"cited_by_count":2}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}