{"id":"https://openalex.org/W2408984069","doi":"https://doi.org/10.1515/jpem-2014-0394","title":"Hypomagnesemia due to two novel TRPM6 mutations","display_name":"Hypomagnesemia due to two novel TRPM6 mutations","publication_year":2015,"publication_date":"2015-01-01","ids":{"openalex":"https://openalex.org/W2408984069","doi":"https://doi.org/10.1515/jpem-2014-0394","mag":"2408984069","pmid":"https://pubmed.ncbi.nlm.nih.gov/26226117"},"language":"en","primary_location":{"id":"doi:10.1515/jpem-2014-0394","doi":"https://doi.org/10.1515/jpem-2014-0394","is_oa":false,"landing_page_url":"https://doi.org/10.1515/jpem-2014-0394","pdf_url":null,"source":{"id":"https://openalex.org/S18163555","display_name":"Journal of Pediatric Endocrinology and Metabolism","issn_l":"0334-018X","issn":["0334-018X","2191-0251"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310313990","host_organization_name":"De Gruyter","host_organization_lineage":["https://openalex.org/P4310313990"],"host_organization_lineage_names":["De Gruyter"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Endocrinology and Metabolism","raw_type":"journal-article"},"volume":null,"type":"article","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":"https://openalex.org/A5090538822","display_name":"Michelle Coulter","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Michelle Coulter","raw_affiliation_strings":["Divison of Pediatric Endocrinology, University of Alabama at Birmingham, 1601 4th Avenue South CPP 230, Birmingham, AL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Divison of Pediatric Endocrinology, University of Alabama at Birmingham, 1601 4th Avenue South CPP 230, Birmingham, AL, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087700687","display_name":"Caroline Colvin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Caroline Colvin","raw_affiliation_strings":["Divison of Pediatric Endocrinology, University of Alabama at Birmingham, 1601 4th Avenue South CPP 230, Birmingham, AL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Divison of Pediatric Endocrinology, University of Alabama at Birmingham, 1601 4th Avenue South CPP 230, Birmingham, AL, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5017041268","display_name":"Bruce R. Korf","orcid":"https://orcid.org/0000-0001-8272-339X","observed_orcids":["https://orcid.org/0000-0001-8272-339X"]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Bruce Korf","raw_affiliation_strings":["Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building 720, 20th Street South, Birmingham, AL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building 720, 20th Street South, Birmingham, AL, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008655012","display_name":"Ludwine M. Messiaen","orcid":"https://orcid.org/0000-0002-1136-0154","observed_orcids":["https://orcid.org/0000-0002-1136-0154"]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ludwine Messiaen","raw_affiliation_strings":["Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building 720, 20th Street South, Birmingham, AL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building 720, 20th Street South, Birmingham, AL, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053261709","display_name":"Benjamin Tuanama Diaz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Benjamin Tuanama","raw_affiliation_strings":["Divison of Pediatric Endocrinology, University of Alabama at Birmingham, 1601 4th Avenue South CPP 230, Birmingham, AL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Divison of Pediatric Endocrinology, University of Alabama at Birmingham, 1601 4th Avenue South CPP 230, Birmingham, AL, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111708345","display_name":"Michael Crowley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michael Crowley","raw_affiliation_strings":["Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building 720, 20th Street South, Birmingham, AL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building 720, 20th Street South, Birmingham, AL, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058615793","display_name":"David K. Crossman","orcid":"https://orcid.org/0000-0002-0981-169X","observed_orcids":["https://orcid.org/0000-0002-0981-169X"]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David K. Crossman","raw_affiliation_strings":["Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building 720, 20th Street South, Birmingham, AL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, University of Alabama at Birmingham, Kaul Human Genetics Building 720, 20th Street South, Birmingham, AL, USA","institution_ids":["https://openalex.org/I32389192"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5038406263","display_name":"Kenneth L. McCormick","orcid":"https://orcid.org/0000-0003-3762-0572","observed_orcids":["https://orcid.org/0000-0003-3762-0572"]},"institutions":[{"id":"https://openalex.org/I32389192","display_name":"University of Alabama at Birmingham","ror":"https://ror.org/008s83205","country_code":"US","type":"education","lineage":["https://openalex.org/I32389192"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Kenneth McCormick","raw_affiliation_strings":["Divison of Pediatric Endocrinology, University of Alabama at Birmingham, 1601 4th Avenue South CPP 230, Birmingham, AL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Divison of Pediatric Endocrinology, University of Alabama at Birmingham, 1601 4th Avenue South CPP 230, Birmingham, AL, USA","institution_ids":["https://openalex.org/I32389192"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5090538822"],"corresponding_institution_ids":["https://openalex.org/I32389192"],"apc_list":{"value":2400,"currency":"EUR","value_usd":2712},"apc_paid":null,"fwci":1.9248,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.85010171,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"28","issue":"11-12","first_page":"1373","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12280","display_name":"Magnesium in Health and Disease","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T12280","display_name":"Magnesium in Health and Disease","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2916","display_name":"Nutrition and Dietetics"},"field":{"id":"https://openalex.org/fields/29","display_name":"Nursing"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"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/T10452","display_name":"Iron Metabolism and Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2720","display_name":"Hematology"},"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/hypomagnesemia","display_name":"hypomagnesemia","score":0.9900000095367432},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.5550000071525574},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8980000019073486},{"id":"https://openalex.org/keywords/neonatal-hypomagnesemia","display_name":"neonatal hypomagnesemia","score":0.7860000133514404},{"id":"https://openalex.org/keywords/hypocalcemia","display_name":"hypocalcemia","score":0.843999981880188},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.7559999823570251},{"id":"https://openalex.org/keywords/magnesium-supplementation","display_name":"magnesium supplementation","score":0.6830000281333923}],"concepts":[{"id":"https://openalex.org/C2776183862","wikidata":"https://www.wikidata.org/wiki/Q3771629","display_name":"Hypomagnesemia","level":3,"score":0.9701699018478394},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8508990406990051},{"id":"https://openalex.org/C543218039","wikidata":"https://www.wikidata.org/wiki/Q660","display_name":"Magnesium","level":2,"score":0.817175030708313},{"id":"https://openalex.org/C2776036575","wikidata":"https://www.wikidata.org/wiki/Q1641062","display_name":"Hyperphosphatemia","level":3,"score":0.6951318979263306},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6145238876342773},{"id":"https://openalex.org/C2776079296","wikidata":"https://www.wikidata.org/wiki/Q139195","display_name":"Calcitriol","level":3,"score":0.6138547658920288},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.5756832957267761},{"id":"https://openalex.org/C519063684","wikidata":"https://www.wikidata.org/wiki/Q706","display_name":"Calcium","level":2,"score":0.5365592837333679},{"id":"https://openalex.org/C2775941721","wikidata":"https://www.wikidata.org/wiki/Q1586088","display_name":"Hypoparathyroidism","level":2,"score":0.5007836818695068},{"id":"https://openalex.org/C2781208988","wikidata":"https://www.wikidata.org/wiki/Q202476","display_name":"Parathyroid hormone","level":3,"score":0.49240314960479736},{"id":"https://openalex.org/C2780880258","wikidata":"https://www.wikidata.org/wiki/Q3771629","display_name":"Magnesium deficiency (plants)","level":3,"score":0.4873422086238861},{"id":"https://openalex.org/C2778242168","wikidata":"https://www.wikidata.org/wiki/Q794086","display_name":"Hypokalemia","level":2,"score":0.41604089736938477},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.07330244779586792},{"id":"https://openalex.org/C178790620","wikidata":"https://www.wikidata.org/wiki/Q11351","display_name":"Organic chemistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006996","descriptor_name":"Hypocalcemia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D006996","descriptor_name":"Hypocalcemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007011","descriptor_name":"Hypoparathyroidism","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D007011","descriptor_name":"Hypoparathyroidism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008274","descriptor_name":"Magnesium","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D015499","descriptor_name":"Renal Tubular Transport, Inborn Errors","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D015499","descriptor_name":"Renal Tubular Transport, Inborn Errors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D050053","descriptor_name":"TRPM Cation Channels","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D054559","descriptor_name":"Hyperphosphatemia","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D054559","descriptor_name":"Hyperphosphatemia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1515/jpem-2014-0394","doi":"https://doi.org/10.1515/jpem-2014-0394","is_oa":false,"landing_page_url":"https://doi.org/10.1515/jpem-2014-0394","pdf_url":null,"source":{"id":"https://openalex.org/S18163555","display_name":"Journal of Pediatric Endocrinology and Metabolism","issn_l":"0334-018X","issn":["0334-018X","2191-0251"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-40","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310313990","host_organization_name":"De Gruyter","host_organization_lineage":["https://openalex.org/P4310313990"],"host_organization_lineage_names":["De Gruyter"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Pediatric Endocrinology and Metabolism","raw_type":"journal-article"},{"id":"pmid:26226117","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26226117","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":"Journal of pediatric endocrinology & metabolism : JPEM","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":8,"referenced_works":["https://openalex.org/W114397949","https://openalex.org/W1853061700","https://openalex.org/W1981688857","https://openalex.org/W1994918152","https://openalex.org/W2008287383","https://openalex.org/W2065341014","https://openalex.org/W2122350012","https://openalex.org/W2156051705"],"related_works":["https://openalex.org/W2151323728","https://openalex.org/W2065341014","https://openalex.org/W2922550416","https://openalex.org/W4414578791","https://openalex.org/W3031445818","https://openalex.org/W4392194169","https://openalex.org/W4415474601","https://openalex.org/W4406964001","https://openalex.org/W2550730828","https://openalex.org/W3017340538"],"abstract_inverted_index":{"BACKGROUND:":[0],"Although":[1],"most":[2],"hypocalcemia":[3],"with":[4,38,57,67,113,173],"hypomagenesemia":[5],"in":[6,31],"the":[7,131,157,183],"neonatal":[8,14],"period":[9],"is":[10],"due":[11],"to":[12,45,81,123,159],"transient":[13],"hypoparathyroidism,":[15],"magnesium":[16,65,69,75,79,96,119,129,146,189],"channel":[17],"defects":[18],"should":[19],"also":[20],"be":[21,160],"considered.":[22],"CASE:":[23],"We":[24],"report":[25],"a":[26,174],"case":[27,181],"of":[28,59,134,185,188],"persistent":[29,114],"hypomagnesemia":[30],"an":[32],"8-day-old":[33],"Hispanic":[34],"male":[35],"who":[36],"presented":[37],"generalized":[39],"seizures.":[40],"He":[41],"was":[42,76,86,98,105],"initially":[43],"found":[44],"have":[46],"hypomagnesemia,":[47],"hypocalcemia,":[48],"hyperphosphatemia":[49],"and":[50,61,89,111,126,177,191],"normal":[51],"parathyroid":[52],"hormone.":[53],"Serum":[54,64],"calcium":[55,62,110],"normalized":[56],"administration":[58],"calcitriol":[60,112],"carbonate.":[63],"improved":[66],"oral":[68,109,118],"sulfate.":[70],"However,":[71,116],"1":[72],"week":[73],"after":[74,94],"discontinued,":[77],"serum":[78,95,128],"declined":[80],"0.5":[82],"mg/dL.":[83,102],"Magnesium":[84],"supplementation":[85],"immediately":[87],"restarted,":[88],"periodic":[90],"seizure":[91],"activity":[92],"resolved":[93],"concentration":[97],"maintained":[99],"above":[100],"0.9":[101],"The":[103],"child":[104,158],"eventually":[106],"weaned":[107],"off":[108],"normocalemia.":[115],"supraphysiologic":[117],"doses":[120],"were":[121,151],"necessary":[122],"prevent":[124],"seizures":[125],"maintain":[127],"at":[130],"low":[132],"limit":[133],"normal.":[135],"METHODS":[136],"AND":[137],"RESULTS:":[138],"As":[139],"his":[140],"clinical":[141],"presentation":[142],"suggested":[143],"primary":[144],"renal":[145],"wastage,":[147],"TRPM6":[148,164,169],"gene":[149],"mutations":[150,170],"suspected;":[152],"subsequent":[153],"genetic":[154,194],"testing":[155],"revealed":[156],"compound":[161],"heterozygous":[162],"for":[163],"mutations.":[165,195],"CONCLUSION:":[166],"Two":[167],"novel":[168],"are":[171],"described":[172],"new":[175,193],"geographic":[176],"ethnic":[178],"origin.":[179],"This":[180],"highlights":[182],"importance":[184],"recognizing":[186],"disorders":[187],"imbalance":[190],"describing":[192]},"counts_by_year":[{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":3},{"year":2017,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
