{"id":"https://openalex.org/W7222851178","doi":"https://doi.org/10.1016/j.ymgmr.2026.101374","title":"Identification of two pathogenic guanidinoacetate methyltransferase variants in patients with intellectual disability: clinical and molecular insights","display_name":"Identification of two pathogenic guanidinoacetate methyltransferase variants in patients with intellectual disability: clinical and molecular insights","publication_year":2026,"publication_date":"2026-10-17","ids":{"openalex":"https://openalex.org/W7222851178","doi":"https://doi.org/10.1016/j.ymgmr.2026.101374","pmid":"https://pubmed.ncbi.nlm.nih.gov/42936352","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13697290"},"language":"en","primary_location":{"id":"doi:10.1016/j.ymgmr.2026.101374","doi":"https://doi.org/10.1016/j.ymgmr.2026.101374","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgmr.2026.101374","pdf_url":null,"source":{"id":"https://openalex.org/S2764617610","display_name":"Molecular Genetics and Metabolism Reports","issn_l":"2214-4269","issn":["2214-4269"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","norway-1","poland-40","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism 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://doi.org/10.1016/j.ymgmr.2026.101374","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113910155","display_name":"Seyyed Reza Hashemi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210128695","display_name":"Hormozgan University of Medical Sciences","ror":"https://ror.org/037wqsr57","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210128695"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Seyyed Reza Hashemi","raw_affiliation_strings":["Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran","institution_ids":["https://openalex.org/I4210128695"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090609599","display_name":"AbdolAzim Nejatizadeh","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210128695","display_name":"Hormozgan University of Medical Sciences","ror":"https://ror.org/037wqsr57","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210128695"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"AbdolAzim Nejatizadeh","raw_affiliation_strings":["Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran","institution_ids":["https://openalex.org/I4210128695"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077267456","display_name":"Mohammad Hasan Sheikhha","orcid":"https://orcid.org/0000-0002-3734-8970","observed_orcids":["https://orcid.org/0000-0002-3734-8970"]},"institutions":[{"id":"https://openalex.org/I223669574","display_name":"Shahid Sadoughi University of Medical Sciences and Health Services","ror":"https://ror.org/01zby9g91","country_code":"IR","type":"education","lineage":["https://openalex.org/I223669574"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Mohammad Hasan Sheikhha","raw_affiliation_strings":["Department of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran","institution_ids":["https://openalex.org/I223669574"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012096602","display_name":"Ali Reza Moayedi","orcid":"https://orcid.org/0000-0002-1079-0750","observed_orcids":["https://orcid.org/0000-0002-1079-0750"]},"institutions":[{"id":"https://openalex.org/I4210128695","display_name":"Hormozgan University of Medical Sciences","ror":"https://ror.org/037wqsr57","country_code":"IR","type":"education","lineage":["https://openalex.org/I4210128695"]}],"countries":["IR"],"is_corresponding":false,"raw_author_name":"Ali Reza Moayedi","raw_affiliation_strings":["Pediatric Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Pediatric Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran","institution_ids":["https://openalex.org/I4210128695"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029408794","display_name":"Abbas Daneshipour","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Abbas Daneshipour","raw_affiliation_strings":["Meybod Genetic Research Center, Meybod, Yazd, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Meybod Genetic Research Center, Meybod, Yazd, Iran","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032976768","display_name":"Shokouh Rajabi Firoozabadi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shokouh Rajabi Firoozabadi","raw_affiliation_strings":["Meybod Genetic Research Center, Meybod, Yazd, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Meybod Genetic Research Center, Meybod, Yazd, Iran","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104117027","display_name":"Seyed Ahmad Mohammadi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Seyed Ahmad Mohammadi","raw_affiliation_strings":["Meybod Genetic Research Center, Meybod, Yazd, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Meybod Genetic Research Center, Meybod, Yazd, Iran","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5031098640","display_name":"Seyed Mehdi Kalantar","orcid":"https://orcid.org/0000-0002-6994-6449","observed_orcids":["https://orcid.org/0000-0002-6994-6449","https://orcid.org/0000-0001-6471-0157"]},"institutions":[{"id":"https://openalex.org/I223669574","display_name":"Shahid Sadoughi University of Medical Sciences and Health Services","ror":"https://ror.org/01zby9g91","country_code":"IR","type":"education","lineage":["https://openalex.org/I223669574"]}],"countries":["IR"],"is_corresponding":true,"raw_author_name":"Seyed Mehdi Kalantar","raw_affiliation_strings":["Abortion Research Center, Yazd Institute of Reproductive Sciences, Shahid Sadoughi University of Medical Sciences, Yazd, Iran","Department of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran","Meybod Genetic Research Center, Meybod, Yazd, Iran"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abortion Research Center, Yazd Institute of Reproductive Sciences, Shahid Sadoughi University of Medical Sciences, Yazd, Iran","institution_ids":["https://openalex.org/I223669574"]},{"raw_affiliation_string":"Department of Medical Genetics, Faculty of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran","institution_ids":["https://openalex.org/I223669574"]},{"raw_affiliation_string":"Meybod Genetic Research Center, Meybod, Yazd, Iran","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5031098640"],"corresponding_institution_ids":["https://openalex.org/I223669574"],"apc_list":{"value":2400,"currency":"USD","value_usd":2400},"apc_paid":{"value":2400,"currency":"USD","value_usd":2400},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.79548255,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"49","issue":null,"first_page":"101374","last_page":"101374"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9550999999046326,"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":0.9550999999046326,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.01889999955892563,"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"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.018699999898672104,"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/guanidinoacetate-methyltransferase-deficiency","display_name":"guanidinoacetate methyltransferase deficiency","score":0.9819999933242798},{"id":"https://openalex.org/keywords/guanidinoacetate-methyltransferase","display_name":"GAMT","score":0.878000020980835},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9909999966621399},{"id":"https://openalex.org/keywords/creatine-biosynthesis","display_name":"creatine synthesis","score":0.7789999842643738},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.7789999842643738},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.9660000205039978},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.9559999704360962},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.8180000185966492},{"id":"https://openalex.org/keywords/iranian-patients","display_name":"Iranian patients","score":0.7260000109672546},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.6320000290870667}],"concepts":[{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.7337999939918518},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.660099983215332},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5627999901771545},{"id":"https://openalex.org/C2779896295","wikidata":"https://www.wikidata.org/wiki/Q223600","display_name":"Creatine","level":2,"score":0.5120000243186951},{"id":"https://openalex.org/C2779388368","wikidata":"https://www.wikidata.org/wiki/Q3450985","display_name":"Neurodevelopmental disorder","level":3,"score":0.5098000168800354},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.4909999966621399},{"id":"https://openalex.org/C12125453","wikidata":"https://www.wikidata.org/wiki/Q5156837","display_name":"Compound heterozygosity","level":4,"score":0.4758000075817108},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.42579999566078186},{"id":"https://openalex.org/C551499885","wikidata":"https://www.wikidata.org/wiki/Q183560","display_name":"Intellectual disability","level":2,"score":0.4214000105857849},{"id":"https://openalex.org/C37463918","wikidata":"https://www.wikidata.org/wiki/Q387981","display_name":"Allele frequency","level":4,"score":0.39899998903274536},{"id":"https://openalex.org/C62923972","wikidata":"https://www.wikidata.org/wiki/Q600499","display_name":"Nonsense","level":3,"score":0.39169999957084656},{"id":"https://openalex.org/C143589142","wikidata":"https://www.wikidata.org/wiki/Q2617554","display_name":"Loss of heterozygosity","level":4,"score":0.38420000672340393},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.38179999589920044},{"id":"https://openalex.org/C2779674439","wikidata":"https://www.wikidata.org/wiki/Q25312637","display_name":"Global developmental delay","level":4,"score":0.3174000084400177},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.3138999938964844},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.30820000171661377},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.30309998989105225},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2957000136375427},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.2890999913215637},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.27570000290870667},{"id":"https://openalex.org/C2778538070","wikidata":"https://www.wikidata.org/wiki/Q1436063","display_name":"Autism spectrum disorder","level":3,"score":0.27309998869895935},{"id":"https://openalex.org/C91965660","wikidata":"https://www.wikidata.org/wiki/Q415875","display_name":"Methyltransferase","level":4,"score":0.2662999927997589},{"id":"https://openalex.org/C153209595","wikidata":"https://www.wikidata.org/wiki/Q501128","display_name":"Single-nucleotide polymorphism","level":4,"score":0.258899986743927},{"id":"https://openalex.org/C130895681","wikidata":"https://www.wikidata.org/wiki/Q5282122","display_name":"Disease gene identification","level":5,"score":0.25769999623298645},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2535000145435333},{"id":"https://openalex.org/C146304588","wikidata":"https://www.wikidata.org/wiki/Q961652","display_name":"Case-control study","level":2,"score":0.25049999356269836}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.1016/j.ymgmr.2026.101374","doi":"https://doi.org/10.1016/j.ymgmr.2026.101374","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgmr.2026.101374","pdf_url":null,"source":{"id":"https://openalex.org/S2764617610","display_name":"Molecular Genetics and Metabolism Reports","issn_l":"2214-4269","issn":["2214-4269"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","norway-1","poland-40","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism Reports","raw_type":"journal-article"},{"id":"doi:10.2139/ssrn.7322888","doi":"https://doi.org/10.2139/ssrn.7322888","is_oa":true,"landing_page_url":"https://doi.org/10.2139/ssrn.7322888","pdf_url":null,"source":{"id":"https://openalex.org/S4210172589","display_name":"SSRN Electronic Journal","issn_l":"1556-5068","issn":["1556-5068"],"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1318003438","host_organization_name":"RELX Group (Netherlands)","host_organization_lineage":["https://openalex.org/I1318003438"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":null,"raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:13697290","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13697290/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13697290/pdf/main.pdf","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","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Mol Genet Metab Rep","raw_type":"Text"},{"id":"pmid:42936352","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42936352","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":"Molecular genetics and metabolism reports","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:501e1099992e4824a075990e3bf2afd4","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/501e1099992e4824a075990e3bf2afd4","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":"Molecular Genetics and Metabolism Reports, Vol 49, Iss , Pp 101374- (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.ymgmr.2026.101374","doi":"https://doi.org/10.1016/j.ymgmr.2026.101374","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ymgmr.2026.101374","pdf_url":null,"source":{"id":"https://openalex.org/S2764617610","display_name":"Molecular Genetics and Metabolism Reports","issn_l":"2214-4269","issn":["2214-4269"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","norway-1","poland-40","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Molecular Genetics and Metabolism Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320327362","display_name":"Hormozgan University of Medical Sciences","ror":"https://ror.org/037wqsr57"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7222851178.pdf","grobid_xml":"https://content.openalex.org/works/W7222851178.grobid-xml"},"referenced_works_count":39,"referenced_works":["https://openalex.org/W146512937","https://openalex.org/W1534516629","https://openalex.org/W1592832248","https://openalex.org/W1971060324","https://openalex.org/W1973856239","https://openalex.org/W1979113533","https://openalex.org/W1993671911","https://openalex.org/W2026971330","https://openalex.org/W2040933195","https://openalex.org/W2045347081","https://openalex.org/W2058179986","https://openalex.org/W2073454252","https://openalex.org/W2075328508","https://openalex.org/W2076248499","https://openalex.org/W2097848939","https://openalex.org/W2099101508","https://openalex.org/W2100320692","https://openalex.org/W2115558586","https://openalex.org/W2131375312","https://openalex.org/W2158029720","https://openalex.org/W2161604667","https://openalex.org/W2167247297","https://openalex.org/W2302516981","https://openalex.org/W2519015349","https://openalex.org/W2602589905","https://openalex.org/W2782895599","https://openalex.org/W2888066901","https://openalex.org/W2904114936","https://openalex.org/W2953369183","https://openalex.org/W2980365636","https://openalex.org/W3002195462","https://openalex.org/W3002240800","https://openalex.org/W3015022292","https://openalex.org/W3047037593","https://openalex.org/W3047873127","https://openalex.org/W3129080828","https://openalex.org/W4251024555","https://openalex.org/W4312400719","https://openalex.org/W4388738530"],"related_works":["https://openalex.org/W7204492002","https://openalex.org/W7125585552","https://openalex.org/W2167247297","https://openalex.org/W2051779095","https://openalex.org/W2945058517","https://openalex.org/W4316021011","https://openalex.org/W4312524148","https://openalex.org/W4315700715","https://openalex.org/W1961120958","https://openalex.org/W2940570219"],"abstract_inverted_index":{"Background":[0],"Intellectual":[1],"disability":[2],"(ID)":[3],"is":[4,18],"a":[5,19,39,156,220,253],"genetically":[6],"heterogeneous":[7],"neurodevelopmental":[8,42,293],"disorder":[9,23],"with":[10,59,80,126,202,271],"diverse":[11],"underlying":[12],"causes.":[13],"Guanidinoacetate":[14],"methyltransferase":[15],"(GAMT)":[16],"deficiency":[17,267,281],"rare":[20],"autosomal":[21,203],"recessive":[22,204],"of":[24,34,41,55,222,237,247,265,278,287,300],"creatine":[25,30,231,302],"biosynthesis":[26],"characterized":[27],"by":[28,101,251,297],"cerebral":[29,116,230],"depletion":[31],"and":[32,63,94,104,115,179,196,219,228,258,262,306,314],"accumulation":[33],"guanidinoacetate":[35],"(GAA),":[36],"resulting":[37],"in":[38,57,75,124,137,166,192,198,268],"spectrum":[40,246],"manifestations,":[43],"including":[44],"intellectual":[45,212,289],"disability.":[46],"This":[47,241],"study":[48,242],"aimed":[49],"to":[50,64,109,164,185],"investigate":[51],"the":[52,144,175,193,235,244,276,283],"molecular":[53,245,305],"basis":[54],"ID":[56],"individuals":[58,79,125,195,270],"suspected":[60],"genetic":[61,315],"etiologies":[62],"characterize":[65],"pathogenic":[66,127,183,255],"GAMT":[67,128,133,238,248,266,280],"variants.":[68,129],"Methods":[69],"Whole-exome":[70],"sequencing":[71,189],"(WES)":[72],"was":[73,107],"performed":[74,108],"50":[76],"unrelated":[77,139],"Iranian":[78,269],"idiopathic":[81],"ID.":[82,272],"Variants":[83],"were":[84,99,121,135,172,180],"prioritized":[85],"based":[86],"on":[87],"population":[88,176],"allele":[89],"frequency,":[90],"predicted":[91,163],"functional":[92],"impact,":[93],"genotype\u2013phenotype":[95],"correlation.":[96],"Candidate":[97],"variants":[98,134,171],"confirmed":[100,190],"Sanger":[102,188],"sequencing,":[103],"segregation":[105],"analysis":[106],"establish":[110],"their":[111,199],"inheritance":[112],"patterns.":[113],"Biochemical":[114],"magnetic":[117],"resonance":[118],"spectroscopy":[119],"findings":[120,274],"also":[122],"evaluated":[123],"Results":[130],"Pathogenic":[131],"biallelic":[132],"identified":[136],"two":[138],"families.":[140],"Patient":[141,153],"1":[142],"harbored":[143],"homozygous":[145,158],"nonsense":[146],"variant":[147,257],"NM_000156.6:c.134G":[148],">":[149],"A":[150],"(p.Trp45Ter),":[151],"whereas":[152],"2":[154],"carried":[155],"novel":[157,254],"four-base-pair":[159],"deletion,":[160],"NM_000156.6:c.373_376del":[161],"(p.Pro125ThrfsTer35),":[162],"result":[165],"premature":[167],"protein":[168],"truncation.":[169],"Both":[170,206],"absent":[173],"from":[174],"databases":[177],"examined":[178],"classified":[181],"as":[182],"according":[184],"ACMG/AMP":[186],"criteria.":[187],"homozygosity":[191],"affected":[194],"heterozygosity":[197],"parents,":[200],"consistent":[201],"inheritance.":[205],"patients":[207],"exhibited":[208],"global":[209],"developmental":[210],"delay,":[211],"disability,":[213,290],"severe":[214],"speech":[215],"impairment,":[216],"behavioral/autistic":[217],"features,":[218],"history":[221],"seizures.":[223],"Elevated":[224],"plasma":[225],"GAA":[226],"concentrations":[227],"reduced":[229],"levels":[232],"further":[233],"supported":[234],"diagnosis":[236],"deficiency.":[239],"Conclusions":[240],"expands":[243],"-related":[249],"disease":[250],"identifying":[252],"frameshift":[256],"provides":[259],"additional":[260],"clinical":[261,312],"biochemical":[263,298,307],"characterization":[264],"The":[273],"highlight":[275],"importance":[277],"considering":[279],"among":[282],"potentially":[284],"treatable":[285],"causes":[286],"unexplained":[288],"particularly":[291],"when":[292],"manifestations":[294],"are":[295],"accompanied":[296],"evidence":[299],"disturbed":[301],"metabolism.":[303],"Early":[304],"recognition":[308],"may":[309],"facilitate":[310],"appropriate":[311],"management":[313],"counseling.":[316]},"counts_by_year":[],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2026-10-18T00:00:00"}
