{"id":"https://openalex.org/W2016246250","doi":"https://doi.org/10.1136/archdischild-2012-302724.1031","title":"1031 Aminoacidopathies: Review and Data of 12 Years Experience from a Spanish Tertiary Care Center","display_name":"1031 Aminoacidopathies: Review and Data of 12 Years Experience from a Spanish Tertiary Care Center","publication_year":2012,"publication_date":"2012-10-01","ids":{"openalex":"https://openalex.org/W2016246250","doi":"https://doi.org/10.1136/archdischild-2012-302724.1031","mag":"2016246250"},"language":"en","primary_location":{"id":"doi:10.1136/archdischild-2012-302724.1031","doi":"https://doi.org/10.1136/archdischild-2012-302724.1031","is_oa":true,"landing_page_url":"https://doi.org/10.1136/archdischild-2012-302724.1031","pdf_url":"https://adc.bmj.com/content/archdischild/97/Suppl_2/A295.4.full.pdf","source":{"id":"https://openalex.org/S207294652","display_name":"Archives of Disease in Childhood","issn_l":"0003-9888","issn":["0003-9888","1468-2044"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Disease in Childhood","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://adc.bmj.com/content/archdischild/97/Suppl_2/A295.4.full.pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"L. F. Antolin","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L. F. Antolin","raw_affiliation_strings":["Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023994894","display_name":"E. M. Medinilla","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E. M. Medinilla","raw_affiliation_strings":["Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"J. B. Alonso","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. B. Alonso","raw_affiliation_strings":["Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"V. N. Lopez","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"V. N. Lopez","raw_affiliation_strings":["Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108430190","display_name":"J. S. Nieto","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J. S. Nieto","raw_affiliation_strings":["Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110103204","display_name":"AL Urda Cardona","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. U. Cardona","raw_affiliation_strings":["Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain","institution_ids":[]}]},{"author_position":"middle","author":{"id":null,"display_name":"A. J. Ortiz","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A. J. Ortiz","raw_affiliation_strings":["Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain","institution_ids":[]}]},{"author_position":"last","author":{"id":null,"display_name":"C. S. Salinas","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C. S. Salinas","raw_affiliation_strings":["Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Hospital Marterno Infantil Carlos Haya, M\u00e1laga, Spain","institution_ids":[]}]}],"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":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.11594963,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"97","issue":"Suppl 2","first_page":"A295","last_page":"A296"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11027","display_name":"Metabolism and Genetic Disorders","score":1.0,"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":1.0,"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/T12770","display_name":"Amino Acid Enzymes and Metabolism","score":0.0,"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/T12068","display_name":"Neonatal Health and Biochemistry","score":0.0,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/amino-acid-metabolism-disorders","display_name":"amino acid metabolism disorders","score":0.9490000009536743},{"id":"https://openalex.org/keywords/inborn-errors-of-metabolism","display_name":"inborn errors of metabolism","score":0.9139999747276306},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.7099999785423279},{"id":"https://openalex.org/keywords/tandem-mass-spectrometry","display_name":"tandem mass spectrometry","score":0.9890000224113464},{"id":"https://openalex.org/keywords/methylmalonic-acidemia","display_name":"methylmalonic acidemia","score":0.9649999737739563},{"id":"https://openalex.org/keywords/homocystinuria","display_name":"homocystinuria","score":0.9139999747276306},{"id":"https://openalex.org/keywords/glutaric-aciduria-type-i","display_name":"glutaric aciduria type I","score":0.9639999866485596},{"id":"https://openalex.org/keywords/maple-syrup-urine-disease","display_name":"maple syrup urine disease","score":0.8989999890327454},{"id":"https://openalex.org/keywords/hyperammonemia","display_name":"hyperammonemia","score":0.6600000262260437},{"id":"https://openalex.org/keywords/metabolic-acidosis","display_name":"metabolic acidosis","score":0.8550000190734863},{"id":"https://openalex.org/keywords/coagulopathy","display_name":"coagulopathy","score":0.6919999718666077},{"id":"https://openalex.org/keywords/multiple-organ-failure","display_name":"multiple organ failure","score":0.7549999952316284},{"id":"https://openalex.org/keywords/critical-care","display_name":"intensive care","score":0.367000013589859},{"id":"https://openalex.org/keywords/peritoneal-dialysis","display_name":"peritoneal dialysis","score":0.7739999890327454}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9359248876571655},{"id":"https://openalex.org/C2778159418","wikidata":"https://www.wikidata.org/wiki/Q742500","display_name":"Methylmalonic acidemia","level":2,"score":0.7925633788108826},{"id":"https://openalex.org/C2779375456","wikidata":"https://www.wikidata.org/wiki/Q994859","display_name":"Homocystinuria","level":4,"score":0.7666884660720825},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.605703592300415},{"id":"https://openalex.org/C2779214519","wikidata":"https://www.wikidata.org/wiki/Q402575","display_name":"Maple syrup urine disease","level":4,"score":0.5188856720924377},{"id":"https://openalex.org/C2779246250","wikidata":"https://www.wikidata.org/wiki/Q1598200","display_name":"Metabolic acidosis","level":2,"score":0.47437721490859985},{"id":"https://openalex.org/C2776169613","wikidata":"https://www.wikidata.org/wiki/Q2305910","display_name":"Newborn screening","level":2,"score":0.46565940976142883},{"id":"https://openalex.org/C2777910003","wikidata":"https://www.wikidata.org/wiki/Q1707292","display_name":"Asymptomatic","level":2,"score":0.4557996392250061},{"id":"https://openalex.org/C2778621155","wikidata":"https://www.wikidata.org/wiki/Q576349","display_name":"Encephalopathy","level":2,"score":0.4342670440673828},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.42138952016830444},{"id":"https://openalex.org/C2780317664","wikidata":"https://www.wikidata.org/wiki/Q1500373","display_name":"Lactic acidosis","level":2,"score":0.4100757837295532},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.0},{"id":"https://openalex.org/C2780912031","wikidata":"https://www.wikidata.org/wiki/Q180341","display_name":"Methionine","level":3,"score":0.0},{"id":"https://openalex.org/C515207424","wikidata":"https://www.wikidata.org/wiki/Q8066","display_name":"Amino acid","level":2,"score":0.0},{"id":"https://openalex.org/C2776580952","wikidata":"https://www.wikidata.org/wiki/Q483745","display_name":"Leucine","level":3,"score":0.0}],"mesh":[],"locations_count":2,"locations":[{"id":"doi:10.1136/archdischild-2012-302724.1031","doi":"https://doi.org/10.1136/archdischild-2012-302724.1031","is_oa":true,"landing_page_url":"https://doi.org/10.1136/archdischild-2012-302724.1031","pdf_url":"https://adc.bmj.com/content/archdischild/97/Suppl_2/A295.4.full.pdf","source":{"id":"https://openalex.org/S207294652","display_name":"Archives of Disease in Childhood","issn_l":"0003-9888","issn":["0003-9888","1468-2044"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Disease in Childhood","raw_type":"journal-article"},{"id":"pmh:oai:open-archive.highwire.org:archdischild:97/Suppl_2/A295-d","doi":null,"is_oa":false,"landing_page_url":"http://adc.bmj.com/cgi/content/short/97/Suppl_2/A295-d","pdf_url":null,"source":{"id":"https://openalex.org/S4406923041","display_name":"HighWire Press Open Archive","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":"","raw_type":"TEXT"}],"best_oa_location":{"id":"doi:10.1136/archdischild-2012-302724.1031","doi":"https://doi.org/10.1136/archdischild-2012-302724.1031","is_oa":true,"landing_page_url":"https://doi.org/10.1136/archdischild-2012-302724.1031","pdf_url":"https://adc.bmj.com/content/archdischild/97/Suppl_2/A295.4.full.pdf","source":{"id":"https://openalex.org/S207294652","display_name":"Archives of Disease in Childhood","issn_l":"0003-9888","issn":["0003-9888","1468-2044"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-2","ki-jl-1","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Archives of Disease in Childhood","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":1.0}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2016246250.pdf","grobid_xml":"https://content.openalex.org/works/W2016246250.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2354024486","https://openalex.org/W1980452367","https://openalex.org/W2347543485","https://openalex.org/W1986549059","https://openalex.org/W2937367231","https://openalex.org/W2339080456","https://openalex.org/W2914833238","https://openalex.org/W2766475275","https://openalex.org/W2008955680","https://openalex.org/W3128199512"],"abstract_inverted_index":{"Background/Aims":[0],"Range":[1],"and":[2,89,133,147,166,198,247],"severity":[3],"of":[4,46,49,71,98,110,128,244],"symptoms":[5,125,246],"hugely":[6],"variable":[7],"in":[8,20,37,113,204],"aminoacidopathies,":[9],"mainly":[10],"diagnosed":[11,48,66,96,235],"during":[12],"acute":[13],"episodes.":[14],"Tandem":[15],"Mass":[16],"spectrometry":[17],"(Ms/Ms)":[18],"used":[19],"our":[21],"unit":[22],"since":[23,53,102],"2010":[24],"for":[25,31],"diagnosing":[26],"asymptomatic":[27],"infants":[28],"(very":[29],"important":[30],"prognosis).":[32],"Methods":[33],"Retrospective,":[34],"descriptive":[35],"study":[36],"which":[38],"field":[39],"data":[40],"were":[41,126],"collected":[42],"from":[43],"clinical":[44,99,111],"histories":[45],"patients":[47,217],"aminoacidopathies":[50,116],"(excluding":[51],"phenylcetonuria)":[52],"2000":[54],"till":[55],"2012.":[56],"Results":[57],"30":[58],"children":[59],"detected.":[60],"22/30":[61],"male;":[62],"24/30":[63],"caucasians.":[64],"10/30":[65],"by":[67,236],"newborn":[68,104],"screening,":[69],"all":[70],"them":[72],"asymptomatic:":[73],"1":[74,87,90,180,183,188,191,193],"methylmalonic":[75,178],"acidemia":[76],"(MMA),":[77],"3":[78,177,199],"glutaric":[79,184],"aciduria":[80,185],"type":[81,115,186],"1,":[82,187],"2":[83,85,175,196],"homocystinuria,":[84],"methylcrotonylglycinuria,":[86],"hipermetioninemia":[88],"maple":[91],"syrup":[92],"urine":[93],"disease.":[94],"20/30":[95],"because":[97],"symptoms,":[100],"2/20":[101],"MS/MS":[103],"screening":[105],"was":[106,117],"performed.":[107],"Mean":[108],"age":[109],"debut":[112],"intoxication":[114],"64.5":[118],"days":[119],"(median":[120],"8":[121,216],"days).":[122],"Most":[123],"frequent":[124],"clouding":[127],"consciousness":[129],"(9/20),":[130,153],"convulsions":[131],"(2/20)":[132],"apnoea":[134],"(2/20).":[135,168],"Laboratory":[136],"results":[137],"showed":[138],"metabolic":[139],"acidosis":[140],"(6/20),":[141],"hyperammonemia":[142],"(8/20),":[143],"coagulation":[144],"defects":[145],"(4/20)":[146],"hipoglycemia.":[148],"Main":[149],"complications":[150],"were:":[151],"shock":[152],"multiple":[154],"organ":[155],"failure":[156,164],"(5/20),":[157],"coagulopathy":[158],"(4/20),":[159],"brain":[160],"injury":[161],"(1/20),":[162],"liver":[163,229],"(1/20)":[165],"seizures":[167],"The":[169],"final":[170],"diagnosis":[171],"was:":[172],"5":[173],"OTC-defficiency,":[174],"citrullinemia,":[176],"acidemia,":[179,190,195],"3-OH-metilglutaric":[181],"aciduria,":[182],"metilglutaconic":[189],"trimethylaminuria,":[192],"propionic":[194],"tyrosinemia":[197],"homocystinuria.":[200],"Ventilatory":[201],"support":[202],"needed":[203],"13/20,":[205],"vasoactive":[206],"agents":[207],"11/20,":[208],"peritoneal":[209],"dialysis":[210],"8/20,":[211],"continuous":[212],"veno-venous":[213],"haemofiltration":[214],"4/20.":[215],"died;":[218],"among":[219],"survivors,":[220],"2/12":[221],"madurative":[222],"failure,":[223,230],"3/12":[224],"serious":[225],"neurological":[226],"sequelae,":[227],"1/12":[228],"needing":[231],"transplantation.":[232],"Conclusions":[233],"Aminoacidopathies":[234],"Ms/Ms":[237],"start":[238],"early":[239],"with":[240],"treatment.":[241],"Wide":[242],"range":[243],"presentation":[245],"findings.":[248]},"counts_by_year":[],"updated_date":"2026-10-01T08:54:57.152042","created_date":"2016-06-24T00:00:00"}