{"id":"https://openalex.org/W7224128672","doi":"https://doi.org/10.13429/j.cnki.cjcr.2026.10.025","title":"A case of mucolipidosis \u2161alpha/beta caused by GNPTAB gene mutation and its enzyme analysis","display_name":"A case of mucolipidosis \u2161alpha/beta caused by GNPTAB gene mutation and its enzyme analysis","publication_year":2026,"publication_date":"2026-10-01","ids":{"openalex":"https://openalex.org/W7224128672","doi":"https://doi.org/10.13429/j.cnki.cjcr.2026.10.025"},"language":"zh","primary_location":{"id":"pmh:oai:doaj.org/article:3dde1c69e0f14bcfa11026853710ec50","doi":"https://doi.org/10.13429/j.cnki.cjcr.2026.10.025","is_oa":false,"landing_page_url":"https://doaj.org/article/3dde1c69e0f14bcfa11026853710ec50","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Zhongguo linchuang yanjiu, Vol 39, Iss 10, Pp 1599-1604 (2026)","raw_type":"article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["doaj"],"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/A5008674977","display_name":"Rujia Liang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"LIANG Rujia","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5159997870","display_name":"LIU Fang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"LIU Fang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5159994659","display_name":"YIN Xiaowei","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"YIN Xiaowei","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5160043321","display_name":"DU Zhifang","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"DU Zhifang","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5159992688","display_name":"LIU Jun","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"LIU Jun","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.85790537,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.9932000041007996,"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":0.9932000041007996,"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":0.0038999998942017555,"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"}},{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.0017000000225380063,"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/mucolipidosis-ii","display_name":"mucolipidosis II","score":0.8429999947547913},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.9129999876022339},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.6470000147819519},{"id":"https://openalex.org/keywords/lysosomal-enzyme-activity","display_name":"lysosomal enzyme activity","score":0.640999972820282},{"id":"https://openalex.org/keywords/beta-galactosidase","display_name":"beta-galactosidase","score":0.8180000185966492},{"id":"https://openalex.org/keywords/beta-glucuronidase","display_name":"beta-glucuronidase","score":0.9990000128746033},{"id":"https://openalex.org/keywords/hexosaminidase","display_name":"hexosaminidase","score":0.9480000138282776},{"id":"https://openalex.org/keywords/lysosomal-storage-disorders","display_name":"lysosomal storage disease","score":0.7839999794960022},{"id":"https://openalex.org/keywords/neonatal-diagnosis","display_name":"neonatal diagnosis","score":0.843999981880188},{"id":"https://openalex.org/keywords/enzymatic-biomarkers","display_name":"enzymatic biomarkers","score":0.6970000267028809},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.6809999942779541}],"concepts":[{"id":"https://openalex.org/C2778264360","wikidata":"https://www.wikidata.org/wiki/Q675010","display_name":"Lysosomal storage disease","level":3,"score":0.7900999784469604},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6775000095367432},{"id":"https://openalex.org/C2780905385","wikidata":"https://www.wikidata.org/wiki/Q1952032","display_name":"Mucolipidosis","level":3,"score":0.5960999727249146},{"id":"https://openalex.org/C181199279","wikidata":"https://www.wikidata.org/wiki/Q8047","display_name":"Enzyme","level":2,"score":0.5957000255584717},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5900999903678894},{"id":"https://openalex.org/C2780216420","wikidata":"https://www.wikidata.org/wiki/Q83330","display_name":"Lysosome","level":3,"score":0.5867000222206116},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.498199999332428},{"id":"https://openalex.org/C111204789","wikidata":"https://www.wikidata.org/wiki/Q1313153","display_name":"Hexosaminidase","level":3,"score":0.47780001163482666},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.47189998626708984},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.44749999046325684},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.4465999901294708},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.4214000105857849},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.4146000146865845},{"id":"https://openalex.org/C70219777","wikidata":"https://www.wikidata.org/wiki/Q14911527","display_name":"Nonsense-mediated decay","level":5,"score":0.4002000093460083},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.3538999855518341},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.34929999709129333},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.34599998593330383},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.32589998841285706},{"id":"https://openalex.org/C28212737","wikidata":"https://www.wikidata.org/wiki/Q5381543","display_name":"Enzyme assay","level":3,"score":0.32120001316070557},{"id":"https://openalex.org/C12387725","wikidata":"https://www.wikidata.org/wiki/Q937024","display_name":"Phenocopy","level":4,"score":0.3156000077724457},{"id":"https://openalex.org/C43053761","wikidata":"https://www.wikidata.org/wiki/Q286379","display_name":"Beta-galactosidase","level":4,"score":0.3154999911785126},{"id":"https://openalex.org/C2777878887","wikidata":"https://www.wikidata.org/wiki/Q1493513","display_name":"Gangliosidosis","level":3,"score":0.3149999976158142},{"id":"https://openalex.org/C62923972","wikidata":"https://www.wikidata.org/wiki/Q600499","display_name":"Nonsense","level":3,"score":0.3068000078201294},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.3052000105381012},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3041999936103821},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.3005000054836273},{"id":"https://openalex.org/C10162356","wikidata":"https://www.wikidata.org/wiki/Q1135939","display_name":"Pathophysiology","level":2,"score":0.2867000102996826},{"id":"https://openalex.org/C163565370","wikidata":"https://www.wikidata.org/wiki/Q4308623","display_name":"Mutation testing","level":4,"score":0.28529998660087585},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.27239999175071716},{"id":"https://openalex.org/C2993153387","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic diagnosis","level":3,"score":0.26260000467300415},{"id":"https://openalex.org/C23085057","wikidata":"https://www.wikidata.org/wiki/Q5532877","display_name":"Genetic analysis","level":3,"score":0.25600001215934753},{"id":"https://openalex.org/C137061746","wikidata":"https://www.wikidata.org/wiki/Q736033","display_name":"Peripheral blood mononuclear cell","level":3,"score":0.25540000200271606},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.2529999911785126}],"mesh":[],"locations_count":1,"locations":[{"id":"pmh:oai:doaj.org/article:3dde1c69e0f14bcfa11026853710ec50","doi":"https://doi.org/10.13429/j.cnki.cjcr.2026.10.025","is_oa":false,"landing_page_url":"https://doaj.org/article/3dde1c69e0f14bcfa11026853710ec50","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Zhongguo linchuang yanjiu, Vol 39, Iss 10, Pp 1599-1604 (2026)","raw_type":"article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9763000011444092,"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":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2807434747","https://openalex.org/W2048763450","https://openalex.org/W4405689633","https://openalex.org/W2068559218","https://openalex.org/W4226341330","https://openalex.org/W2122947761","https://openalex.org/W2397366812","https://openalex.org/W3192270769","https://openalex.org/W2094002543","https://openalex.org/W2986629658"],"abstract_inverted_index":{"Objective":[0],"To":[1],"summarize":[2],"the":[3,22,34,180],"clinical":[4,195],"features,enzymatic":[5],"and":[6,29,39,69,88,113,118,123,160,170,185,189,201],"genetic":[7,190],"diagnostic":[8],"approaches":[9],"in":[10,21,65,96,116,125,164,173,194],"a":[11,45,106,141],"neonatal":[12],"case":[13],"of":[14,44,183],"mucolipidosis(ML)\u2161\u03b1/\u03b2":[15],"caused":[16,148],"by":[17,149],"compound":[18],"heterozygous":[19],"mutations":[20,95],"N-acetylglucosamine":[23],"-":[24,111,158,162],"1":[25],"-phosphatetransferase":[26],"subunits":[27],"alpha":[28],"beta":[30],"(GNPTAB)gene,and":[31],"to":[32,56,197],"elucidate":[33],"relationship":[35],"between":[36],"its":[37],"pathophysiology":[38],"phenotype.":[40],"Methods":[41],"Clinical":[42],"data":[43],"neonate":[46,79],"with":[47,108],"ML":[48,137],"\u2161\u03b1/\u03b2":[49,138],"were":[50,71,135],"retrospectively":[51],"reviewed.Whole-exome":[52],"sequencing":[53],"was":[54],"performed":[55],"identify":[57],"GNPTAB":[58,150],"gene":[59,151],"variants,and":[60],"various":[61],"lysosomal":[62,142],"enzymes":[63],"activities":[64],"peripheral":[66],"blood":[67],"leukocytes":[68,117],"plasma":[70],"measured":[72],"using":[73],"fluorogenic":[74],"substrate":[75],"assay.":[76],"Results":[77],"The":[78],"exhibited":[80],"typical":[81],"manifestations":[82],"at":[83],"birth,including":[84],"distinctive":[85],"facies,skeletal":[86],"abnormalities":[87],"hypotonia.":[89],"Genetic":[90],"analysis":[91],"identified":[92],"two":[93],"nonsense":[94],"GNPTAB:c.2404C>T(paternally":[97],"inherited)and":[98],"c.289A>T(maternally":[99],"inherited,de":[100],"novo).":[101],"Enzyme":[102],"activity":[103],"profiles":[104],"demonstrated":[105],"characteristic":[107],"reduced":[109],"\u03b2":[110,114,157,161,171],"galactosidase":[112,159],"-glucuronidase":[115,172],"markedly":[119],"elevated":[120],"total":[121,168],"hexosaminidase":[122,169],"\u03b2-glucuronidase":[124],"plasma.":[126],"During":[127],"follow-up,progressive":[128],"growth":[129],"retardation,cardiac":[130],"defects,joint":[131],"contractures,and":[132],"neurodevelopmental":[133],"delay":[134],"observed.Conclusion":[136],"type":[139],"is":[140,154,192],"enzyme":[143],"M6P":[144],"tagging":[145],"defect":[146],"disease":[147],"mutations.":[152],"It":[153],"recommended":[155],"that":[156],"glucuronidase":[163],"leukocytes,as":[165],"well":[166],"as":[167,176],"plasma,be":[174],"adopted":[175],"enzymatic":[177,187],"biomarkers":[178],"for":[179],"biochemical":[181],"testing":[182,191],"ML\u2161\u03b1/\u03b2":[184],"ML\u2162\u03b1/\u03b2.Combined":[186],"assay":[188],"advised":[193],"practice":[196],"facilitate":[198],"early":[199],"diagnosis":[200],"differential":[202],"diagnosis.":[203]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-10-29T00:00:00"}