{"id":"https://openalex.org/W2072931386","doi":"https://doi.org/10.3109/15513819109065486","title":"Dysplasia of the Corpus Callosum in Identical Twins with Nonketotic Hyperglycinemia","display_name":"Dysplasia of the Corpus Callosum in Identical Twins with Nonketotic Hyperglycinemia","publication_year":1991,"publication_date":"1991-01-01","ids":{"openalex":"https://openalex.org/W2072931386","doi":"https://doi.org/10.3109/15513819109065486","mag":"2072931386","pmid":"https://pubmed.ncbi.nlm.nih.gov/1775403"},"language":"en","primary_location":{"id":"doi:10.3109/15513819109065486","doi":"https://doi.org/10.3109/15513819109065486","is_oa":false,"landing_page_url":"https://doi.org/10.3109/15513819109065486","pdf_url":null,"source":{"id":"https://openalex.org/S4210187405","display_name":"Pediatric Pathology","issn_l":"0277-0938","issn":["0277-0938"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Pathology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"Thomas Rogers","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800446032","display_name":"Rhode Island Hospital","ror":"https://ror.org/01aw9fv09","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800446032","https://openalex.org/I4210151747"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Thomas Rogers","raw_affiliation_strings":["Rhode Island Hospital, Providence 02903"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rhode Island Hospital, Providence 02903","institution_ids":["https://openalex.org/I2800446032"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014992585","display_name":"Molham Al-Rayess","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]},{"id":"https://openalex.org/I2800446032","display_name":"Rhode Island Hospital","ror":"https://ror.org/01aw9fv09","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800446032","https://openalex.org/I4210151747"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Molham Al-Rayess","raw_affiliation_strings":["Rhode Island Hospital and Brown University, Providence, Rhode Island, 02903"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rhode Island Hospital and Brown University, Providence, Rhode Island, 02903","institution_ids":["https://openalex.org/I27804330","https://openalex.org/I2800446032"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5105576057","display_name":"Patricia A. O\u2019Shea","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]},{"id":"https://openalex.org/I2800446032","display_name":"Rhode Island Hospital","ror":"https://ror.org/01aw9fv09","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800446032","https://openalex.org/I4210151747"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Patricia O'Shea","raw_affiliation_strings":["Rhode Island Hospital and Brown University, Providence, Rhode Island, 02903"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rhode Island Hospital and Brown University, Providence, Rhode Island, 02903","institution_ids":["https://openalex.org/I27804330","https://openalex.org/I2800446032"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5044780865","display_name":"Mary Webb Ambler","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27804330","display_name":"Brown University","ror":"https://ror.org/05gq02987","country_code":"US","type":"education","lineage":["https://openalex.org/I27804330"]},{"id":"https://openalex.org/I2800446032","display_name":"Rhode Island Hospital","ror":"https://ror.org/01aw9fv09","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I2800446032","https://openalex.org/I4210151747"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mary W. Ambler","raw_affiliation_strings":["Rhode Island Hospital and Brown University, Providence, Rhode Island, 02903"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Rhode Island Hospital and Brown University, Providence, Rhode Island, 02903","institution_ids":["https://openalex.org/I27804330","https://openalex.org/I2800446032"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":10,"citation_normalized_percentile":{"value":0.16545455,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"11","issue":"6","first_page":"897","last_page":"902"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9599999785423279,"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":0.9599999785423279,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.03530000150203705,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.000699999975040555,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/nonketotic-hyperglycinemia","display_name":"nonketotic hyperglycinemia","score":0.9959999918937683},{"id":"https://openalex.org/keywords/corpus-callosum-dysplasia","display_name":"corpus callosum dysplasia","score":0.9359999895095825},{"id":"https://openalex.org/keywords/monozygotic-twins","display_name":"monozygotic twins","score":0.9539999961853027},{"id":"https://openalex.org/keywords/glycine-accumulation","display_name":"glycine accumulation","score":0.8289999961853027},{"id":"https://openalex.org/keywords/autosomal-recessive-disorder","display_name":"autosomal recessive disorder","score":0.8500000238418579},{"id":"https://openalex.org/keywords/metabolic-screening","display_name":"metabolic screening","score":0.6000000238418579},{"id":"https://openalex.org/keywords/congenital-brain-malformation","display_name":"congenital brain malformation","score":0.6129999756813049}],"concepts":[{"id":"https://openalex.org/C2781185993","wikidata":"https://www.wikidata.org/wiki/Q5958026","display_name":"Hyperglycinemia","level":4,"score":0.9954214096069336},{"id":"https://openalex.org/C2778183499","wikidata":"https://www.wikidata.org/wiki/Q223851","display_name":"Corpus callosum","level":2,"score":0.7890878915786743},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.5153717398643494},{"id":"https://openalex.org/C2777756961","wikidata":"https://www.wikidata.org/wiki/Q620730","display_name":"Glycine","level":3,"score":0.4753260910511017},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.40588468313217163},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3993183672428131},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3594890832901001},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.34438252449035645},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3380652070045471},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.08923065662384033}],"mesh":[{"descriptor_ui":"D001921","descriptor_name":"Brain","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D003337","descriptor_name":"Corpus Callosum","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D004200","descriptor_name":"Diseases in Twins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005998","descriptor_name":"Glycine","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","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":"D012640","descriptor_name":"Seizures","qualifier_ui":"Q000209","qualifier_name":"etiology","is_major_topic":false},{"descriptor_ui":"D014430","descriptor_name":"Twins, Monozygotic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D061085","descriptor_name":"Agenesis of Corpus Callosum","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.3109/15513819109065486","doi":"https://doi.org/10.3109/15513819109065486","is_oa":false,"landing_page_url":"https://doi.org/10.3109/15513819109065486","pdf_url":null,"source":{"id":"https://openalex.org/S4210187405","display_name":"Pediatric Pathology","issn_l":"0277-0938","issn":["0277-0938"],"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/P4310320547","host_organization_name":"Taylor & Francis","host_organization_lineage":["https://openalex.org/P4310320547","https://openalex.org/P4310320449"],"host_organization_lineage_names":["Taylor & Francis","Informa"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Pathology","raw_type":"journal-article"},{"id":"pmid:1775403","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1775403","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":"Pediatric pathology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"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":11,"referenced_works":["https://openalex.org/W2009890292","https://openalex.org/W2024845545","https://openalex.org/W2041596182","https://openalex.org/W2052903131","https://openalex.org/W2063362449","https://openalex.org/W2068860075","https://openalex.org/W2085990693","https://openalex.org/W2091097515","https://openalex.org/W2141503793","https://openalex.org/W4214888643","https://openalex.org/W4241502607"],"related_works":["https://openalex.org/W2141503793","https://openalex.org/W143560412","https://openalex.org/W1486049038","https://openalex.org/W2791626604","https://openalex.org/W2072715269","https://openalex.org/W2000729676","https://openalex.org/W2408952972","https://openalex.org/W2037458202","https://openalex.org/W4210978753","https://openalex.org/W4385663656"],"abstract_inverted_index":{"Nonketotic":[0],"hyperglycinemia":[1,28],"(NKH)":[2],"is":[3,63],"an":[4],"autosomal":[5],"recessively":[6],"inherited":[7],"disorder":[8],"of":[9,17,31,39,51],"the":[10,32,40,52],"glycine":[11,18,53],"degradation":[12,54],"pathway":[13,55],"leading":[14],"to":[15,65],"accumulation":[16],"in":[19,37,57],"body":[20],"fluids":[21],"and":[22,29],"tissues.":[23],"Identical":[24],"twins":[25],"with":[26,45],"nonketotic":[27],"dysplasia":[30],"corpus":[33,59],"callosum":[34],"are":[35,74],"described":[36],"support":[38],"hypothesis":[41],"that":[42],"some":[43],"patients":[44],"NKH":[46],"have":[47],"a":[48],"genetic":[49],"defect":[50],"resulting":[56],"abnormal":[58],"callosal":[60],"development.":[61],"It":[62],"important":[64],"screen":[66],"for":[67],"metabolic":[68],"defects":[69,73],"whenever":[70],"similar":[71],"structural":[72],"present.":[75]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
