Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014) View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

F. H. de Bitencourt, I. V. D. Schwartz, F. S. L. Vianna

ABSTRACT

BACKGROUND: The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with sudden death (SUDI). To date, the frequency of IEM-associated SUDI has not been studied in Brazil. The present study sought to characterize infant mortality related to IEMs known to cause SUDI disaggregated by each of the regions of Brazil. METHODS: This was a descriptive, cross-sectional, population-based study of data obtained from the Brazilian Ministry of Health Mortality Information System (SIM). Death records were obtained for all infants (age < 1 year) who died in Brazil in 2002-2014 in whom the underlying cause of death was listed as ICD-10 codes E70 (Disorders of aromatic amino-acid metabolism), E71 (Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism), E72 (Other disorders of amino-acid metabolism), or E74 (Other disorders of carbohydrate metabolism), which are known to be associated with SUDI. RESULTS: From 2002 to 2014, 199 deaths of infants aged < 1 year were recorded in the SIM with an underlying cause corresponding to one of the IEMs of interest. The prevalence of IEM-related deaths was 0.67 per 10,000 live births (0.58-0.77). Of these 199 deaths, 18 (9.0%) occurred in the North of Brazil, 43 (21.6%) in the Northeast, 80 (40.2%) in the Southeast, 46 (23.1%) in the South, and 12 (6.0%) in the Center-West region. Across all regions of the country, ICD10-E74 was predominant. CONCLUSIONS: This 13-year time-series study provides the first analysis of the number of infant deaths in Brazil attributable to IEMs known to be associated with sudden death. More... »

PAGES

52

References to SciGraph publications

  • 2010. Inherited Metabolic Rare Disease in RARE DISEASES EPIDEMIOLOGY
  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1186/s12887-019-1421-y

    DOI

    http://dx.doi.org/10.1186/s12887-019-1421-y

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1112024151

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30736757


    Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
    Incoming Citations Browse incoming citations for this publication using opencitations.net

    JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "about": [
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1117", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Public Health and Health Services", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11", 
            "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
            "name": "Medical and Health Sciences", 
            "type": "DefinedTerm"
          }
        ], 
        "author": [
          {
            "affiliation": {
              "alternateName": "Federal University of Rio Grande do Sul", 
              "id": "https://www.grid.ac/institutes/grid.8532.c", 
              "name": [
                "Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil"
              ], 
              "type": "Organization"
            }, 
            "familyName": "de Bitencourt", 
            "givenName": "F. H.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital de Cl\u00ednicas de Porto Alegre", 
              "id": "https://www.grid.ac/institutes/grid.414449.8", 
              "name": [
                "Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil", 
                "Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-003, Porto Alegre, RS, Brazil"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Schwartz", 
            "givenName": "I. V. D.", 
            "type": "Person"
          }, 
          {
            "affiliation": {
              "alternateName": "Hospital de Cl\u00ednicas de Porto Alegre", 
              "id": "https://www.grid.ac/institutes/grid.414449.8", 
              "name": [
                "Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil", 
                "Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-003, Porto Alegre, RS, Brazil", 
                "Laborat\u00f3rio de Medicina Gen\u00f4mica/Laborat\u00f3rio de Laborat\u00f3rio de Pesquisa em Bio\u00e9tica e \u00c9tica na Ci\u00eancia (LAPEBEC), Experimental Research Service, Hospital de Cl\u00ednicas de Porto Alegre, Porto Alegre, Brazil"
              ], 
              "type": "Organization"
            }, 
            "familyName": "Vianna", 
            "givenName": "F. S. L.", 
            "type": "Person"
          }
        ], 
        "citation": [
          {
            "id": "https://doi.org/10.1590/s0034-89102005000600003", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1000727420"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajhb.22328", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002347825"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.prrv.2009.12.002", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1002807681"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajhb.22802", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004603695"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1590/s0102-30982010000200004", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1004775948"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.3109/10408363.2013.847896", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1014069708"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-90-481-9485-8_23", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015404730", 
              "https://doi.org/10.1007/978-90-481-9485-8_23"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "sg:pub.10.1007/978-90-481-9485-8_23", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1015404730", 
              "https://doi.org/10.1007/978-90-481-9485-8_23"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1159/000443874", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1017233839"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0022-3476(98)70385-3", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1029816678"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.31180", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032261927"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1002/ajmg.a.31180", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1032261927"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1590/s1415-47572014000200005", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1035285243"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1136/jcp.2004.020677", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1036417647"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1590/s0102-311x2005000400008", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1037549225"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/j.ymgme.2010.12.004", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1039222839"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1590/s1519-38292005000400004", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1041668066"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1016/s0009-8981(02)00182-1", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1043047520"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1067/mpd.2002.130259", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051511653"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1067/mpd.2002.130259", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1051511653"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.1590/s0102-311x2006001200010", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1052769719"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://doi.org/10.5123/s1679-49742012000100012", 
            "sameAs": [
              "https://app.dimensions.ai/details/publication/pub.1072622679"
            ], 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1074840864", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1075058675", 
            "type": "CreativeWork"
          }, 
          {
            "id": "https://app.dimensions.ai/details/publication/pub.1075784461", 
            "type": "CreativeWork"
          }
        ], 
        "datePublished": "2019-12", 
        "datePublishedReg": "2019-12-01", 
        "description": "BACKGROUND: The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with sudden death (SUDI). To date, the frequency of IEM-associated SUDI has not been studied in Brazil. The present study sought to characterize infant mortality related to IEMs known to cause SUDI disaggregated by each of the regions of Brazil.\nMETHODS: This was a descriptive, cross-sectional, population-based study of data obtained from the Brazilian Ministry of Health Mortality Information System (SIM). Death records were obtained for all infants (age\u2009<\u20091\u2009year) who died in Brazil in 2002-2014 in whom the underlying cause of death was listed as ICD-10 codes E70 (Disorders of aromatic amino-acid metabolism), E71 (Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism), E72 (Other disorders of amino-acid metabolism), or E74 (Other disorders of carbohydrate metabolism), which are known to be associated with SUDI.\nRESULTS: From 2002 to 2014, 199 deaths of infants aged <\u20091\u2009year were recorded in the SIM with an underlying cause corresponding to one of the IEMs of interest. The prevalence of IEM-related deaths was 0.67 per 10,000 live births (0.58-0.77). Of these 199 deaths, 18 (9.0%) occurred in the North of Brazil, 43 (21.6%) in the Northeast, 80 (40.2%) in the Southeast, 46 (23.1%) in the South, and 12 (6.0%) in the Center-West region. Across all regions of the country, ICD10-E74 was predominant.\nCONCLUSIONS: This 13-year time-series study provides the first analysis of the number of infant deaths in Brazil attributable to IEMs known to be associated with sudden death.", 
        "genre": "research_article", 
        "id": "sg:pub.10.1186/s12887-019-1421-y", 
        "inLanguage": [
          "en"
        ], 
        "isAccessibleForFree": true, 
        "isPartOf": [
          {
            "id": "sg:journal.1024635", 
            "issn": [
              "1471-2431"
            ], 
            "name": "BMC Pediatrics", 
            "type": "Periodical"
          }, 
          {
            "issueNumber": "1", 
            "type": "PublicationIssue"
          }, 
          {
            "type": "PublicationVolume", 
            "volumeNumber": "19"
          }
        ], 
        "name": "Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002\u20132014)", 
        "pagination": "52", 
        "productId": [
          {
            "name": "readcube_id", 
            "type": "PropertyValue", 
            "value": [
              "ae76b6a5d7797c92c66074b0b5912af44b5fbc05830a55bc8d1f5518a836f0bc"
            ]
          }, 
          {
            "name": "pubmed_id", 
            "type": "PropertyValue", 
            "value": [
              "30736757"
            ]
          }, 
          {
            "name": "nlm_unique_id", 
            "type": "PropertyValue", 
            "value": [
              "100967804"
            ]
          }, 
          {
            "name": "doi", 
            "type": "PropertyValue", 
            "value": [
              "10.1186/s12887-019-1421-y"
            ]
          }, 
          {
            "name": "dimensions_id", 
            "type": "PropertyValue", 
            "value": [
              "pub.1112024151"
            ]
          }
        ], 
        "sameAs": [
          "https://doi.org/10.1186/s12887-019-1421-y", 
          "https://app.dimensions.ai/details/publication/pub.1112024151"
        ], 
        "sdDataset": "articles", 
        "sdDatePublished": "2019-04-11T09:12", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000338_0000000338/records_47980_00000002.jsonl", 
        "type": "ScholarlyArticle", 
        "url": "https://link.springer.com/10.1186%2Fs12887-019-1421-y"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s12887-019-1421-y'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s12887-019-1421-y'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s12887-019-1421-y'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s12887-019-1421-y'


     

    This table displays all metadata directly associated to this object as RDF triples.

    149 TRIPLES      21 PREDICATES      51 URIs      21 LITERALS      9 BLANK NODES

    Subject Predicate Object
    1 sg:pub.10.1186/s12887-019-1421-y schema:about anzsrc-for:11
    2 anzsrc-for:1117
    3 schema:author N9ea56fe4133243439acac270ab16f390
    4 schema:citation sg:pub.10.1007/978-90-481-9485-8_23
    5 https://app.dimensions.ai/details/publication/pub.1074840864
    6 https://app.dimensions.ai/details/publication/pub.1075058675
    7 https://app.dimensions.ai/details/publication/pub.1075784461
    8 https://doi.org/10.1002/ajhb.22328
    9 https://doi.org/10.1002/ajhb.22802
    10 https://doi.org/10.1002/ajmg.a.31180
    11 https://doi.org/10.1016/j.prrv.2009.12.002
    12 https://doi.org/10.1016/j.ymgme.2010.12.004
    13 https://doi.org/10.1016/s0009-8981(02)00182-1
    14 https://doi.org/10.1016/s0022-3476(98)70385-3
    15 https://doi.org/10.1067/mpd.2002.130259
    16 https://doi.org/10.1136/jcp.2004.020677
    17 https://doi.org/10.1159/000443874
    18 https://doi.org/10.1590/s0034-89102005000600003
    19 https://doi.org/10.1590/s0102-30982010000200004
    20 https://doi.org/10.1590/s0102-311x2005000400008
    21 https://doi.org/10.1590/s0102-311x2006001200010
    22 https://doi.org/10.1590/s1415-47572014000200005
    23 https://doi.org/10.1590/s1519-38292005000400004
    24 https://doi.org/10.3109/10408363.2013.847896
    25 https://doi.org/10.5123/s1679-49742012000100012
    26 schema:datePublished 2019-12
    27 schema:datePublishedReg 2019-12-01
    28 schema:description BACKGROUND: The literature suggests that 0.9 to 6% of infants who die unexpectedly may have had a metabolic disorder. At least 43 different inborn errors of metabolism (IEMs) have been associated with sudden death (SUDI). To date, the frequency of IEM-associated SUDI has not been studied in Brazil. The present study sought to characterize infant mortality related to IEMs known to cause SUDI disaggregated by each of the regions of Brazil. METHODS: This was a descriptive, cross-sectional, population-based study of data obtained from the Brazilian Ministry of Health Mortality Information System (SIM). Death records were obtained for all infants (age < 1 year) who died in Brazil in 2002-2014 in whom the underlying cause of death was listed as ICD-10 codes E70 (Disorders of aromatic amino-acid metabolism), E71 (Disorders of branched-chain amino-acid metabolism and fatty-acid metabolism), E72 (Other disorders of amino-acid metabolism), or E74 (Other disorders of carbohydrate metabolism), which are known to be associated with SUDI. RESULTS: From 2002 to 2014, 199 deaths of infants aged < 1 year were recorded in the SIM with an underlying cause corresponding to one of the IEMs of interest. The prevalence of IEM-related deaths was 0.67 per 10,000 live births (0.58-0.77). Of these 199 deaths, 18 (9.0%) occurred in the North of Brazil, 43 (21.6%) in the Northeast, 80 (40.2%) in the Southeast, 46 (23.1%) in the South, and 12 (6.0%) in the Center-West region. Across all regions of the country, ICD10-E74 was predominant. CONCLUSIONS: This 13-year time-series study provides the first analysis of the number of infant deaths in Brazil attributable to IEMs known to be associated with sudden death.
    29 schema:genre research_article
    30 schema:inLanguage en
    31 schema:isAccessibleForFree true
    32 schema:isPartOf N121052cea62c4c3eb71129585af4378b
    33 N8803bf6433734b3d87bbff6cf1604ab4
    34 sg:journal.1024635
    35 schema:name Infant mortality in Brazil attributable to inborn errors of metabolism associated with sudden death: a time-series study (2002–2014)
    36 schema:pagination 52
    37 schema:productId N06420b2914e341cd9f4ae28448e0ad8b
    38 N107df0af678441e0926675864df783f0
    39 N6aab0fcd06204578ac28a4c22876e4a0
    40 N83607525812f4267bbc39484498b3f3a
    41 Ncc0dccc5b4234c728c39f77febac989c
    42 schema:sameAs https://app.dimensions.ai/details/publication/pub.1112024151
    43 https://doi.org/10.1186/s12887-019-1421-y
    44 schema:sdDatePublished 2019-04-11T09:12
    45 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    46 schema:sdPublisher Nec286c1c502b41009d697b9281d27e08
    47 schema:url https://link.springer.com/10.1186%2Fs12887-019-1421-y
    48 sgo:license sg:explorer/license/
    49 sgo:sdDataset articles
    50 rdf:type schema:ScholarlyArticle
    51 N06420b2914e341cd9f4ae28448e0ad8b schema:name doi
    52 schema:value 10.1186/s12887-019-1421-y
    53 rdf:type schema:PropertyValue
    54 N107df0af678441e0926675864df783f0 schema:name pubmed_id
    55 schema:value 30736757
    56 rdf:type schema:PropertyValue
    57 N121052cea62c4c3eb71129585af4378b schema:issueNumber 1
    58 rdf:type schema:PublicationIssue
    59 N6aab0fcd06204578ac28a4c22876e4a0 schema:name nlm_unique_id
    60 schema:value 100967804
    61 rdf:type schema:PropertyValue
    62 N83607525812f4267bbc39484498b3f3a schema:name dimensions_id
    63 schema:value pub.1112024151
    64 rdf:type schema:PropertyValue
    65 N8803bf6433734b3d87bbff6cf1604ab4 schema:volumeNumber 19
    66 rdf:type schema:PublicationVolume
    67 N9ea56fe4133243439acac270ab16f390 rdf:first Nfc9f2a8d59d645ecb5df6072c670746f
    68 rdf:rest Nb85bf03005fa415c882e5703e5e99777
    69 Nb85bf03005fa415c882e5703e5e99777 rdf:first Nc09131ddc42645a79f081d2562439a30
    70 rdf:rest Nbb9daf83f05041e98616f022f02299d6
    71 Nbb9daf83f05041e98616f022f02299d6 rdf:first Nbceda7f841d5465a8178356c1ca796ec
    72 rdf:rest rdf:nil
    73 Nbceda7f841d5465a8178356c1ca796ec schema:affiliation https://www.grid.ac/institutes/grid.414449.8
    74 schema:familyName Vianna
    75 schema:givenName F. S. L.
    76 rdf:type schema:Person
    77 Nc09131ddc42645a79f081d2562439a30 schema:affiliation https://www.grid.ac/institutes/grid.414449.8
    78 schema:familyName Schwartz
    79 schema:givenName I. V. D.
    80 rdf:type schema:Person
    81 Ncc0dccc5b4234c728c39f77febac989c schema:name readcube_id
    82 schema:value ae76b6a5d7797c92c66074b0b5912af44b5fbc05830a55bc8d1f5518a836f0bc
    83 rdf:type schema:PropertyValue
    84 Nec286c1c502b41009d697b9281d27e08 schema:name Springer Nature - SN SciGraph project
    85 rdf:type schema:Organization
    86 Nfc9f2a8d59d645ecb5df6072c670746f schema:affiliation https://www.grid.ac/institutes/grid.8532.c
    87 schema:familyName de Bitencourt
    88 schema:givenName F. H.
    89 rdf:type schema:Person
    90 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
    91 schema:name Medical and Health Sciences
    92 rdf:type schema:DefinedTerm
    93 anzsrc-for:1117 schema:inDefinedTermSet anzsrc-for:
    94 schema:name Public Health and Health Services
    95 rdf:type schema:DefinedTerm
    96 sg:journal.1024635 schema:issn 1471-2431
    97 schema:name BMC Pediatrics
    98 rdf:type schema:Periodical
    99 sg:pub.10.1007/978-90-481-9485-8_23 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015404730
    100 https://doi.org/10.1007/978-90-481-9485-8_23
    101 rdf:type schema:CreativeWork
    102 https://app.dimensions.ai/details/publication/pub.1074840864 schema:CreativeWork
    103 https://app.dimensions.ai/details/publication/pub.1075058675 schema:CreativeWork
    104 https://app.dimensions.ai/details/publication/pub.1075784461 schema:CreativeWork
    105 https://doi.org/10.1002/ajhb.22328 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002347825
    106 rdf:type schema:CreativeWork
    107 https://doi.org/10.1002/ajhb.22802 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004603695
    108 rdf:type schema:CreativeWork
    109 https://doi.org/10.1002/ajmg.a.31180 schema:sameAs https://app.dimensions.ai/details/publication/pub.1032261927
    110 rdf:type schema:CreativeWork
    111 https://doi.org/10.1016/j.prrv.2009.12.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002807681
    112 rdf:type schema:CreativeWork
    113 https://doi.org/10.1016/j.ymgme.2010.12.004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039222839
    114 rdf:type schema:CreativeWork
    115 https://doi.org/10.1016/s0009-8981(02)00182-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043047520
    116 rdf:type schema:CreativeWork
    117 https://doi.org/10.1016/s0022-3476(98)70385-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029816678
    118 rdf:type schema:CreativeWork
    119 https://doi.org/10.1067/mpd.2002.130259 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051511653
    120 rdf:type schema:CreativeWork
    121 https://doi.org/10.1136/jcp.2004.020677 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036417647
    122 rdf:type schema:CreativeWork
    123 https://doi.org/10.1159/000443874 schema:sameAs https://app.dimensions.ai/details/publication/pub.1017233839
    124 rdf:type schema:CreativeWork
    125 https://doi.org/10.1590/s0034-89102005000600003 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000727420
    126 rdf:type schema:CreativeWork
    127 https://doi.org/10.1590/s0102-30982010000200004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004775948
    128 rdf:type schema:CreativeWork
    129 https://doi.org/10.1590/s0102-311x2005000400008 schema:sameAs https://app.dimensions.ai/details/publication/pub.1037549225
    130 rdf:type schema:CreativeWork
    131 https://doi.org/10.1590/s0102-311x2006001200010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052769719
    132 rdf:type schema:CreativeWork
    133 https://doi.org/10.1590/s1415-47572014000200005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035285243
    134 rdf:type schema:CreativeWork
    135 https://doi.org/10.1590/s1519-38292005000400004 schema:sameAs https://app.dimensions.ai/details/publication/pub.1041668066
    136 rdf:type schema:CreativeWork
    137 https://doi.org/10.3109/10408363.2013.847896 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014069708
    138 rdf:type schema:CreativeWork
    139 https://doi.org/10.5123/s1679-49742012000100012 schema:sameAs https://app.dimensions.ai/details/publication/pub.1072622679
    140 rdf:type schema:CreativeWork
    141 https://www.grid.ac/institutes/grid.414449.8 schema:alternateName Hospital de Clínicas de Porto Alegre
    142 schema:name Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    143 Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    144 Laboratório de Medicina Genômica/Laboratório de Laboratório de Pesquisa em Bioética e Ética na Ciência (LAPEBEC), Experimental Research Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
    145 Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-003, Porto Alegre, RS, Brazil
    146 rdf:type schema:Organization
    147 https://www.grid.ac/institutes/grid.8532.c schema:alternateName Federal University of Rio Grande do Sul
    148 schema:name Graduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
    149 rdf:type schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...