{"id":"https://openalex.org/W2005227463","doi":"https://doi.org/10.1203/00006450-199804001-00463","title":"\u201cLeucine Sensitive Hypoglycemia\u201d Caused by a Dominantly-inherited Mutation of Glutamate Dehydrogenase \u2022 442","display_name":"\u201cLeucine Sensitive Hypoglycemia\u201d Caused by a Dominantly-inherited Mutation of Glutamate Dehydrogenase \u2022 442","publication_year":1998,"publication_date":"1998-04-01","ids":{"openalex":"https://openalex.org/W2005227463","doi":"https://doi.org/10.1203/00006450-199804001-00463","mag":"2005227463"},"language":"en","primary_location":{"id":"doi:10.1203/00006450-199804001-00463","doi":"https://doi.org/10.1203/00006450-199804001-00463","is_oa":false,"landing_page_url":"https://doi.org/10.1203/00006450-199804001-00463","pdf_url":null,"source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Research","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"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/A5113621071","display_name":"Betty Y.L. Hsu","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL","US"],"is_corresponding":false,"raw_author_name":"Betty YL Hsu","raw_affiliation_strings":["Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5019475734","display_name":"Julia Kharlip","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL","US"],"is_corresponding":false,"raw_author_name":"Julia Kharlip","raw_affiliation_strings":["Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Jie Fang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL","US"],"is_corresponding":false,"raw_author_name":"Jie Fang","raw_affiliation_strings":["Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5030315782","display_name":"Mortimer Poncz","orcid":"https://orcid.org/0000-0001-7237-3613","observed_orcids":["https://orcid.org/0000-0001-7237-3613"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL","US"],"is_corresponding":false,"raw_author_name":"Mortimer Poncz","raw_affiliation_strings":["Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5086069753","display_name":"Benjamin Gl\u00e4ser","orcid":"https://orcid.org/0000-0003-4711-5000","observed_orcids":["https://orcid.org/0000-0003-4711-5000"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL","US"],"is_corresponding":false,"raw_author_name":"Benjamin Glaser","raw_affiliation_strings":["Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073631988","display_name":"Charles A. Stanley","orcid":"https://orcid.org/0000-0003-4881-9392","observed_orcids":["https://orcid.org/0000-0003-4881-9392"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I2799899409","display_name":"Hadassah Medical Center","ror":"https://ror.org/01cqmqj90","country_code":"IL","type":"healthcare","lineage":["https://openalex.org/I2799899409"]}],"countries":["IL","US"],"is_corresponding":false,"raw_author_name":"Charles A Stanley","raw_affiliation_strings":["Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Endocrine Div., Children's Hospital of Philadelphia, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Endocrinology & Metabolism Dept, Hadassah Med. Sch., Jerusalem, Israel","institution_ids":["https://openalex.org/I2799899409"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4390,"currency":"USD","value_usd":4390},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":2,"citation_normalized_percentile":{"value":0.12115093,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"43","issue":null,"first_page":"78","last_page":"78"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":0.9419000148773193,"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":0.9419000148773193,"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/T12604","display_name":"Glycogen Storage Diseases and Myoclonus","score":0.0340999998152256,"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/T10560","display_name":"Diabetes Management and Research","score":0.00419999985024333,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/glutamate-dehydrogenase","display_name":"glutamate dehydrogenase","score":0.9909999966621399},{"id":"https://openalex.org/keywords/dominant-mutations","display_name":"dominant mutations","score":0.6320000290870667},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.6019999980926514},{"id":"https://openalex.org/keywords/leucine-metabolism","display_name":"leucine metabolism","score":0.6940000057220459},{"id":"https://openalex.org/keywords/hypoglycemia","display_name":"hypoglycemia","score":0.7829999923706055}],"concepts":[{"id":"https://openalex.org/C2777202666","wikidata":"https://www.wikidata.org/wiki/Q417383","display_name":"Glutamate dehydrogenase","level":4,"score":0.7250208854675293},{"id":"https://openalex.org/C2780668416","wikidata":"https://www.wikidata.org/wiki/Q202758","display_name":"Hypoglycemia","level":3,"score":0.7082186937332153},{"id":"https://openalex.org/C2776580952","wikidata":"https://www.wikidata.org/wiki/Q483745","display_name":"Leucine","level":3,"score":0.5699082612991333},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5311115384101868},{"id":"https://openalex.org/C61174792","wikidata":"https://www.wikidata.org/wiki/Q420510","display_name":"Glutamate receptor","level":3,"score":0.5067823529243469},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4201708734035492},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.40698742866516113},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3509175777435303},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.3382408618927002},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3315260410308838},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2580883502960205},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.2543257474899292},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.12348264455795288},{"id":"https://openalex.org/C2779306644","wikidata":"https://www.wikidata.org/wiki/Q2002370","display_name":"Insulin","level":2,"score":0.0986379086971283},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.1203/00006450-199804001-00463","doi":"https://doi.org/10.1203/00006450-199804001-00463","is_oa":false,"landing_page_url":"https://doi.org/10.1203/00006450-199804001-00463","pdf_url":null,"source":{"id":"https://openalex.org/S167664057","display_name":"Pediatric Research","issn_l":"0031-3998","issn":["0031-3998","1530-0447"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-2","medline","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Pediatric Research","raw_type":"journal-article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8560000061988831,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":2,"referenced_works":["https://openalex.org/W1978672517","https://openalex.org/W2312332127"],"related_works":["https://openalex.org/W2313385980","https://openalex.org/W4238483189","https://openalex.org/W2110234583","https://openalex.org/W1969590517","https://openalex.org/W2322041353","https://openalex.org/W3072398437","https://openalex.org/W210665210","https://openalex.org/W2317029570","https://openalex.org/W2085346343","https://openalex.org/W1997538488"],"abstract_inverted_index":null,"counts_by_year":[{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2016-06-24T00:00:00"}