Neonatal screening for cystic fibrosis: France rises to the challenge View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2003-12

AUTHORS

J. P. Farriaux, M. Vidailhet, M. L. Briard, V. Belot, J. L. Dhondt

ABSTRACT

This paper describes the adjustments to the French neonatal screening programme required by the introduction of systematic screening for cystic fibrosis (CF), taking into account both the legal and statutory framework and the lessons of a pilot study carried out 10 years ago. The French association for the screening and prevention of infant handicaps (AFDPHE) has been mandated by its regulatory agencies to organize screening for CF in France (metropolitan and overseas territories). During the year 2001, expert groups (Technical Aspects, Information, Ethics and Genetics, Criteria for CF Centres, Protocol for the Care of a Newborn with CF) issued recommendations for the establishment of a national programme that would guarantee efficiency and adequate patient care from the time of diagnosis onward. The programme is based on a strategy combining immunoreactive trypsin (IRT) assay and the analysis of DNA mutations in dried blood samples obtained at 3 days of age. When an elevated IRT value is found, DNA analysis is performed on the same sample. Owing to the relative regional heterogeneity existing in France, 30 selected mutations are used, which provide 85% coverage. The Ethics and Genetics Committee recommended that, in order to avoid arousing anxiety by a recall, informed consent, according to the French legislation on bioethics, should be obtained for all neonates at birth by having the parents sign directly on the sampling paper. Information brochures for parents and health professionals have been designed. A new organization of patient care, involving the creation of CF centres recognized by the Ministry of Health, has been decided; all children diagnosed are to be referred to such centres, where they can be well cared for by a trained staff with sufficient means. The programme was implemented region by region in France, from the beginning of the year 2002 to early 2003. The expert groups still meet periodically to evaluate the implementation of the programme and to check that the terms of the agreement between the AFDPHE and the Social Security Agency are complied with. More... »

PAGES

729-744

Identifiers

URI

http://scigraph.springernature.com/pub.10.1023/b:boli.0000009921.42503.c2

DOI

http://dx.doi.org/10.1023/b:boli.0000009921.42503.c2

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1024553108

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/14739679


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"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cystic Fibrosis", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Cystic Fibrosis Transmembrane Conductance Regulator", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "France", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant, Newborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Mutation", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neonatal Screening", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Parents", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Trypsin", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Association Fran\u00e7aise pour le D\u00e9pistage et la Pr\u00e9vention des Handicaps de l\u2019Enfant", 
          "id": "https://www.grid.ac/institutes/grid.489396.9", 
          "name": [
            "Association Fran\u00e7aise pour le D\u00e9pistage et la Pr\u00e9vention des Handicaps de l'Enfant (AFDPHE), Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Farriaux", 
        "givenName": "J. P.", 
        "id": "sg:person.07577127264.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07577127264.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Association Fran\u00e7aise pour le D\u00e9pistage et la Pr\u00e9vention des Handicaps de l\u2019Enfant", 
          "id": "https://www.grid.ac/institutes/grid.489396.9", 
          "name": [
            "Association Fran\u00e7aise pour le D\u00e9pistage et la Pr\u00e9vention des Handicaps de l'Enfant (AFDPHE), Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Vidailhet", 
        "givenName": "M.", 
        "id": "sg:person.01066422145.95", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01066422145.95"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Association Fran\u00e7aise pour le D\u00e9pistage et la Pr\u00e9vention des Handicaps de l\u2019Enfant", 
          "id": "https://www.grid.ac/institutes/grid.489396.9", 
          "name": [
            "Association Fran\u00e7aise pour le D\u00e9pistage et la Pr\u00e9vention des Handicaps de l'Enfant (AFDPHE), Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Briard", 
        "givenName": "M. L.", 
        "id": "sg:person.01370344210.71", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370344210.71"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Association Fran\u00e7aise pour le D\u00e9pistage et la Pr\u00e9vention des Handicaps de l\u2019Enfant", 
          "id": "https://www.grid.ac/institutes/grid.489396.9", 
          "name": [
            "Association Fran\u00e7aise pour le D\u00e9pistage et la Pr\u00e9vention des Handicaps de l'Enfant (AFDPHE), Paris, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Belot", 
        "givenName": "V.", 
        "id": "sg:person.01244510570.45", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244510570.45"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Laboratoire de la Mer", 
          "id": "https://www.grid.ac/institutes/grid.481921.7", 
          "name": [
            "Association Fran\u00e7aise pour le D\u00e9pistage et la Pr\u00e9vention des Handicaps de l'Enfant (AFDPHE), Paris, France", 
            "Laboratoire, H\u00f4pital St Philibert, 115 rue du grand but, F-59462, Lomme cedex, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dhondt", 
        "givenName": "J. L.", 
        "id": "sg:person.0100226714.64", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0100226714.64"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/0925-6164(93)90021-a", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000772116"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(85)92623-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005191501"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(85)92623-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005191501"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jms.9.2.60", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005262420"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jms.9.2.60", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005262420"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00197409", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1011193325", 
          "https://doi.org/10.1007/bf00197409"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/bmj.302.6787.1237", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016369767"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1093/nar/17.7.2503", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1018135284"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0925-6164(93)90022-b", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030712898"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004703-199206000-00005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033953277"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1097/00004703-199206000-00005", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033953277"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1990.tb03613.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044757447"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1074832142", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1075171618", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1083219022", 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3310/hta1070", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083219022"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3310/hta1070", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1083219022"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2003-12", 
    "datePublishedReg": "2003-12-01", 
    "description": "This paper describes the adjustments to the French neonatal screening programme required by the introduction of systematic screening for cystic fibrosis (CF), taking into account both the legal and statutory framework and the lessons of a pilot study carried out 10 years ago. The French association for the screening and prevention of infant handicaps (AFDPHE) has been mandated by its regulatory agencies to organize screening for CF in France (metropolitan and overseas territories). During the year 2001, expert groups (Technical Aspects, Information, Ethics and Genetics, Criteria for CF Centres, Protocol for the Care of a Newborn with CF) issued recommendations for the establishment of a national programme that would guarantee efficiency and adequate patient care from the time of diagnosis onward. The programme is based on a strategy combining immunoreactive trypsin (IRT) assay and the analysis of DNA mutations in dried blood samples obtained at 3 days of age. When an elevated IRT value is found, DNA analysis is performed on the same sample. Owing to the relative regional heterogeneity existing in France, 30 selected mutations are used, which provide 85% coverage. The Ethics and Genetics Committee recommended that, in order to avoid arousing anxiety by a recall, informed consent, according to the French legislation on bioethics, should be obtained for all neonates at birth by having the parents sign directly on the sampling paper. Information brochures for parents and health professionals have been designed. A new organization of patient care, involving the creation of CF centres recognized by the Ministry of Health, has been decided; all children diagnosed are to be referred to such centres, where they can be well cared for by a trained staff with sufficient means. The programme was implemented region by region in France, from the beginning of the year 2002 to early 2003. The expert groups still meet periodically to evaluate the implementation of the programme and to check that the terms of the agreement between the AFDPHE and the Social Security Agency are complied with.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1023/b:boli.0000009921.42503.c2", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1090550", 
        "issn": [
          "0141-8955", 
          "1573-2665"
        ], 
        "name": "Journal of Inherited Metabolic Disease", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "8", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "26"
      }
    ], 
    "name": "Neonatal screening for cystic fibrosis: France rises to the challenge", 
    "pagination": "729-744", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "74f892f4298b76398a2e9bee85e3d5f91ebddec10b5db67de060cdbec406cd4a"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "14739679"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7910918"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1023/b:boli.0000009921.42503.c2"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1024553108"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1023/b:boli.0000009921.42503.c2", 
      "https://app.dimensions.ai/details/publication/pub.1024553108"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-10T22:30", 
    "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/v90/0000000001_0000000264/records_8690_00000505.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1023%2FB%3ABOLI.0000009921.42503.c2"
  }
]
 

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.10.1023/b:boli.0000009921.42503.c2'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1023/b:boli.0000009921.42503.c2'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1023/b:boli.0000009921.42503.c2'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1023/b:boli.0000009921.42503.c2'


 

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

174 TRIPLES      21 PREDICATES      51 URIs      30 LITERALS      18 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1023/b:boli.0000009921.42503.c2 schema:about N10eab87e063f481a9536a1857c5ae67c
2 N13552f04a88240c3a85213215a614077
3 N37c7967587e64b4a99e13604aa9e59d3
4 N37e9d8b963554707ae52529c84d8057e
5 Na0b1903701bf4910938c152a7fd5b94a
6 Nb2d68c83151942f59aec8d7e375a94d3
7 Nca7d0360c21a4ce2a8fee5c2dedd81d7
8 Nd26eaffcd4a042ed80bcf924b1804245
9 Nd387eb640f4b416b9b1cae7c698dc00a
10 anzsrc-for:11
11 anzsrc-for:1117
12 schema:author N34259f561f7b40c893f4a6dc71fae793
13 schema:citation sg:pub.10.1007/bf00197409
14 https://app.dimensions.ai/details/publication/pub.1074832142
15 https://app.dimensions.ai/details/publication/pub.1075171618
16 https://app.dimensions.ai/details/publication/pub.1083219022
17 https://doi.org/10.1016/0925-6164(93)90021-a
18 https://doi.org/10.1016/0925-6164(93)90022-b
19 https://doi.org/10.1016/s0140-6736(85)92623-6
20 https://doi.org/10.1093/nar/17.7.2503
21 https://doi.org/10.1097/00004703-199206000-00005
22 https://doi.org/10.1111/j.1399-0004.1990.tb03613.x
23 https://doi.org/10.1136/bmj.302.6787.1237
24 https://doi.org/10.1136/jms.9.2.60
25 https://doi.org/10.3310/hta1070
26 schema:datePublished 2003-12
27 schema:datePublishedReg 2003-12-01
28 schema:description This paper describes the adjustments to the French neonatal screening programme required by the introduction of systematic screening for cystic fibrosis (CF), taking into account both the legal and statutory framework and the lessons of a pilot study carried out 10 years ago. The French association for the screening and prevention of infant handicaps (AFDPHE) has been mandated by its regulatory agencies to organize screening for CF in France (metropolitan and overseas territories). During the year 2001, expert groups (Technical Aspects, Information, Ethics and Genetics, Criteria for CF Centres, Protocol for the Care of a Newborn with CF) issued recommendations for the establishment of a national programme that would guarantee efficiency and adequate patient care from the time of diagnosis onward. The programme is based on a strategy combining immunoreactive trypsin (IRT) assay and the analysis of DNA mutations in dried blood samples obtained at 3 days of age. When an elevated IRT value is found, DNA analysis is performed on the same sample. Owing to the relative regional heterogeneity existing in France, 30 selected mutations are used, which provide 85% coverage. The Ethics and Genetics Committee recommended that, in order to avoid arousing anxiety by a recall, informed consent, according to the French legislation on bioethics, should be obtained for all neonates at birth by having the parents sign directly on the sampling paper. Information brochures for parents and health professionals have been designed. A new organization of patient care, involving the creation of CF centres recognized by the Ministry of Health, has been decided; all children diagnosed are to be referred to such centres, where they can be well cared for by a trained staff with sufficient means. The programme was implemented region by region in France, from the beginning of the year 2002 to early 2003. The expert groups still meet periodically to evaluate the implementation of the programme and to check that the terms of the agreement between the AFDPHE and the Social Security Agency are complied with.
29 schema:genre research_article
30 schema:inLanguage en
31 schema:isAccessibleForFree false
32 schema:isPartOf N868f32f99e12463194bed1a5cd9ebf54
33 Nea1b10b8b3c943d69c5d9433b4f7e480
34 sg:journal.1090550
35 schema:name Neonatal screening for cystic fibrosis: France rises to the challenge
36 schema:pagination 729-744
37 schema:productId N3459a1aa010f46d389d3d5a9ca6b1d3e
38 N52653fda50fb4e1393ff053eed7290c3
39 N662352b1abf64f5a8015954ed492c9cc
40 Ncf3d11d8d092422482829605ab1dc06e
41 Nd468d446bd7046fc812591f045e1dd54
42 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024553108
43 https://doi.org/10.1023/b:boli.0000009921.42503.c2
44 schema:sdDatePublished 2019-04-10T22:30
45 schema:sdLicense https://scigraph.springernature.com/explorer/license/
46 schema:sdPublisher N533e3a20316c4a338a58d9ebca6d7dd3
47 schema:url http://link.springer.com/10.1023%2FB%3ABOLI.0000009921.42503.c2
48 sgo:license sg:explorer/license/
49 sgo:sdDataset articles
50 rdf:type schema:ScholarlyArticle
51 N05773c27978f4364b9e2486e41348b9c rdf:first sg:person.01066422145.95
52 rdf:rest Na4cb74a2a3094edea3e30d52572d1179
53 N10eab87e063f481a9536a1857c5ae67c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
54 schema:name Neonatal Screening
55 rdf:type schema:DefinedTerm
56 N13552f04a88240c3a85213215a614077 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
57 schema:name Humans
58 rdf:type schema:DefinedTerm
59 N2c7dc98d03954a6f9838e4e8bf22deda rdf:first sg:person.0100226714.64
60 rdf:rest rdf:nil
61 N34259f561f7b40c893f4a6dc71fae793 rdf:first sg:person.07577127264.28
62 rdf:rest N05773c27978f4364b9e2486e41348b9c
63 N3459a1aa010f46d389d3d5a9ca6b1d3e schema:name dimensions_id
64 schema:value pub.1024553108
65 rdf:type schema:PropertyValue
66 N37c7967587e64b4a99e13604aa9e59d3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
67 schema:name Infant, Newborn
68 rdf:type schema:DefinedTerm
69 N37e9d8b963554707ae52529c84d8057e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
70 schema:name Cystic Fibrosis Transmembrane Conductance Regulator
71 rdf:type schema:DefinedTerm
72 N52653fda50fb4e1393ff053eed7290c3 schema:name pubmed_id
73 schema:value 14739679
74 rdf:type schema:PropertyValue
75 N533e3a20316c4a338a58d9ebca6d7dd3 schema:name Springer Nature - SN SciGraph project
76 rdf:type schema:Organization
77 N662352b1abf64f5a8015954ed492c9cc schema:name nlm_unique_id
78 schema:value 7910918
79 rdf:type schema:PropertyValue
80 N868f32f99e12463194bed1a5cd9ebf54 schema:issueNumber 8
81 rdf:type schema:PublicationIssue
82 N8a414c09cc3b42c9b3a7101869e4cea0 rdf:first sg:person.01244510570.45
83 rdf:rest N2c7dc98d03954a6f9838e4e8bf22deda
84 Na0b1903701bf4910938c152a7fd5b94a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
85 schema:name Cystic Fibrosis
86 rdf:type schema:DefinedTerm
87 Na4cb74a2a3094edea3e30d52572d1179 rdf:first sg:person.01370344210.71
88 rdf:rest N8a414c09cc3b42c9b3a7101869e4cea0
89 Nb2d68c83151942f59aec8d7e375a94d3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Trypsin
91 rdf:type schema:DefinedTerm
92 Nca7d0360c21a4ce2a8fee5c2dedd81d7 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
93 schema:name France
94 rdf:type schema:DefinedTerm
95 Ncf3d11d8d092422482829605ab1dc06e schema:name doi
96 schema:value 10.1023/b:boli.0000009921.42503.c2
97 rdf:type schema:PropertyValue
98 Nd26eaffcd4a042ed80bcf924b1804245 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
99 schema:name Mutation
100 rdf:type schema:DefinedTerm
101 Nd387eb640f4b416b9b1cae7c698dc00a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
102 schema:name Parents
103 rdf:type schema:DefinedTerm
104 Nd468d446bd7046fc812591f045e1dd54 schema:name readcube_id
105 schema:value 74f892f4298b76398a2e9bee85e3d5f91ebddec10b5db67de060cdbec406cd4a
106 rdf:type schema:PropertyValue
107 Nea1b10b8b3c943d69c5d9433b4f7e480 schema:volumeNumber 26
108 rdf:type schema:PublicationVolume
109 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
110 schema:name Medical and Health Sciences
111 rdf:type schema:DefinedTerm
112 anzsrc-for:1117 schema:inDefinedTermSet anzsrc-for:
113 schema:name Public Health and Health Services
114 rdf:type schema:DefinedTerm
115 sg:journal.1090550 schema:issn 0141-8955
116 1573-2665
117 schema:name Journal of Inherited Metabolic Disease
118 rdf:type schema:Periodical
119 sg:person.0100226714.64 schema:affiliation https://www.grid.ac/institutes/grid.481921.7
120 schema:familyName Dhondt
121 schema:givenName J. L.
122 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0100226714.64
123 rdf:type schema:Person
124 sg:person.01066422145.95 schema:affiliation https://www.grid.ac/institutes/grid.489396.9
125 schema:familyName Vidailhet
126 schema:givenName M.
127 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01066422145.95
128 rdf:type schema:Person
129 sg:person.01244510570.45 schema:affiliation https://www.grid.ac/institutes/grid.489396.9
130 schema:familyName Belot
131 schema:givenName V.
132 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01244510570.45
133 rdf:type schema:Person
134 sg:person.01370344210.71 schema:affiliation https://www.grid.ac/institutes/grid.489396.9
135 schema:familyName Briard
136 schema:givenName M. L.
137 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01370344210.71
138 rdf:type schema:Person
139 sg:person.07577127264.28 schema:affiliation https://www.grid.ac/institutes/grid.489396.9
140 schema:familyName Farriaux
141 schema:givenName J. P.
142 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07577127264.28
143 rdf:type schema:Person
144 sg:pub.10.1007/bf00197409 schema:sameAs https://app.dimensions.ai/details/publication/pub.1011193325
145 https://doi.org/10.1007/bf00197409
146 rdf:type schema:CreativeWork
147 https://app.dimensions.ai/details/publication/pub.1074832142 schema:CreativeWork
148 https://app.dimensions.ai/details/publication/pub.1075171618 schema:CreativeWork
149 https://app.dimensions.ai/details/publication/pub.1083219022 schema:CreativeWork
150 https://doi.org/10.1016/0925-6164(93)90021-a schema:sameAs https://app.dimensions.ai/details/publication/pub.1000772116
151 rdf:type schema:CreativeWork
152 https://doi.org/10.1016/0925-6164(93)90022-b schema:sameAs https://app.dimensions.ai/details/publication/pub.1030712898
153 rdf:type schema:CreativeWork
154 https://doi.org/10.1016/s0140-6736(85)92623-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005191501
155 rdf:type schema:CreativeWork
156 https://doi.org/10.1093/nar/17.7.2503 schema:sameAs https://app.dimensions.ai/details/publication/pub.1018135284
157 rdf:type schema:CreativeWork
158 https://doi.org/10.1097/00004703-199206000-00005 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033953277
159 rdf:type schema:CreativeWork
160 https://doi.org/10.1111/j.1399-0004.1990.tb03613.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1044757447
161 rdf:type schema:CreativeWork
162 https://doi.org/10.1136/bmj.302.6787.1237 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016369767
163 rdf:type schema:CreativeWork
164 https://doi.org/10.1136/jms.9.2.60 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005262420
165 rdf:type schema:CreativeWork
166 https://doi.org/10.3310/hta1070 schema:sameAs https://app.dimensions.ai/details/publication/pub.1083219022
167 rdf:type schema:CreativeWork
168 https://www.grid.ac/institutes/grid.481921.7 schema:alternateName Laboratoire de la Mer
169 schema:name Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant (AFDPHE), Paris, France
170 Laboratoire, Hôpital St Philibert, 115 rue du grand but, F-59462, Lomme cedex, France
171 rdf:type schema:Organization
172 https://www.grid.ac/institutes/grid.489396.9 schema:alternateName Association Française pour le Dépistage et la Prévention des Handicaps de l’Enfant
173 schema:name Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant (AFDPHE), Paris, France
174 rdf:type schema:Organization
 




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


...