Clinical Approach to Inherited Metabolic Diseases View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1995

AUTHORS

J.-M. Saudubray , H. Ogier de Baulny , C. Charpentier

ABSTRACT

Inborn errors of metabolism are individually rare, but collectively numerous. As a whole, they cannot be recognized through systematic neonatal screening tests, which are too slow, too expensive orunreliable. This makes it an absolute necessity to use a simple method of clinical screening before deciding to initiate sophisticated biochemical investigations. Clinical diagnosis of inborn errors of metabolism may at times be difficult. A number of generally accepted ideas contribute to this difficulty: More... »

PAGES

3-39

References to SciGraph publications

Book

TITLE

Inborn Metabolic Diseases

ISBN

978-3-662-03149-0
978-3-662-03147-6

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-662-03147-6_1

DOI

http://dx.doi.org/10.1007/978-3-662-03147-6_1

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1002349551


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/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "familyName": "Saudubray", 
        "givenName": "J.-M.", 
        "id": "sg:person.011072622542.79", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011072622542.79"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "de Baulny", 
        "givenName": "H. Ogier", 
        "id": "sg:person.0724754007.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724754007.46"
        ], 
        "type": "Person"
      }, 
      {
        "familyName": "Charpentier", 
        "givenName": "C.", 
        "id": "sg:person.01202227227.54", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202227227.54"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/bf01799284", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003160712", 
          "https://doi.org/10.1007/bf01799284"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf01799284", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003160712"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0031-3955(16)33599-4", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1005997283"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320470429", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010895186"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.1320470429", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010895186"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0045-9380(77)80009-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013465056"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(86)80769-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1024170123"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.25.7.463", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025498371"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1079814289", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1995", 
    "datePublishedReg": "1995-01-01", 
    "description": "Inborn errors of metabolism are individually rare, but collectively numerous. As a whole, they cannot be recognized through systematic neonatal screening tests, which are too slow, too expensive orunreliable. This makes it an absolute necessity to use a simple method of clinical screening before deciding to initiate sophisticated biochemical investigations. Clinical diagnosis of inborn errors of metabolism may at times be difficult. A number of generally accepted ideas contribute to this difficulty:", 
    "editor": [
      {
        "familyName": "Fernandes", 
        "givenName": "John", 
        "type": "Person"
      }, 
      {
        "familyName": "Saudubray", 
        "givenName": "Jean-Marie", 
        "type": "Person"
      }, 
      {
        "familyName": "Van den Berghe", 
        "givenName": "Georges", 
        "type": "Person"
      }, 
      {
        "familyName": "Tada", 
        "givenName": "K.", 
        "type": "Person"
      }, 
      {
        "familyName": "Buist", 
        "givenName": "N. R. M.", 
        "type": "Person"
      }
    ], 
    "genre": "chapter", 
    "id": "sg:pub.10.1007/978-3-662-03147-6_1", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": {
      "isbn": [
        "978-3-662-03149-0", 
        "978-3-662-03147-6"
      ], 
      "name": "Inborn Metabolic Diseases", 
      "type": "Book"
    }, 
    "name": "Clinical Approach to Inherited Metabolic Diseases", 
    "pagination": "3-39", 
    "productId": [
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/978-3-662-03147-6_1"
        ]
      }, 
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "0b2fbf5219e69dea8a8546eb3e495721d8af0b3297e12e43161bcaf63cdbfe8b"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1002349551"
        ]
      }
    ], 
    "publisher": {
      "location": "Berlin, Heidelberg", 
      "name": "Springer Berlin Heidelberg", 
      "type": "Organisation"
    }, 
    "sameAs": [
      "https://doi.org/10.1007/978-3-662-03147-6_1", 
      "https://app.dimensions.ai/details/publication/pub.1002349551"
    ], 
    "sdDataset": "chapters", 
    "sdDatePublished": "2019-04-15T21:55", 
    "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_8693_00000244.jsonl", 
    "type": "Chapter", 
    "url": "http://link.springer.com/10.1007/978-3-662-03147-6_1"
  }
]
 

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.10.1007/978-3-662-03147-6_1'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/978-3-662-03147-6_1'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/978-3-662-03147-6_1'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/978-3-662-03147-6_1'


 

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

117 TRIPLES      23 PREDICATES      35 URIs      20 LITERALS      8 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/978-3-662-03147-6_1 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N89d85b3110e643aaba9f9d482715c9e3
4 schema:citation sg:pub.10.1007/bf01799284
5 https://app.dimensions.ai/details/publication/pub.1079814289
6 https://doi.org/10.1002/ajmg.1320470429
7 https://doi.org/10.1007/bf01799284
8 https://doi.org/10.1016/s0022-3476(86)80769-7
9 https://doi.org/10.1016/s0031-3955(16)33599-4
10 https://doi.org/10.1016/s0045-9380(77)80009-1
11 https://doi.org/10.1136/jmg.25.7.463
12 schema:datePublished 1995
13 schema:datePublishedReg 1995-01-01
14 schema:description Inborn errors of metabolism are individually rare, but collectively numerous. As a whole, they cannot be recognized through systematic neonatal screening tests, which are too slow, too expensive orunreliable. This makes it an absolute necessity to use a simple method of clinical screening before deciding to initiate sophisticated biochemical investigations. Clinical diagnosis of inborn errors of metabolism may at times be difficult. A number of generally accepted ideas contribute to this difficulty:
15 schema:editor N5fd5e5aad6e242849d6587b4bd5b72fe
16 schema:genre chapter
17 schema:inLanguage en
18 schema:isAccessibleForFree false
19 schema:isPartOf N97367d615f3143e1bb576a7e3d25f0cb
20 schema:name Clinical Approach to Inherited Metabolic Diseases
21 schema:pagination 3-39
22 schema:productId N005781f1c89b45a1a48599fa29308652
23 N29b38c8d6b8c4644a10a170121966dd5
24 Neb94a7c7951a4a7e8f8c8ecb974577e2
25 schema:publisher Nc9e570cb51f045ac8ae03079a475b3a8
26 schema:sameAs https://app.dimensions.ai/details/publication/pub.1002349551
27 https://doi.org/10.1007/978-3-662-03147-6_1
28 schema:sdDatePublished 2019-04-15T21:55
29 schema:sdLicense https://scigraph.springernature.com/explorer/license/
30 schema:sdPublisher Nda2a077ec0674940b2667a6fbf97ecab
31 schema:url http://link.springer.com/10.1007/978-3-662-03147-6_1
32 sgo:license sg:explorer/license/
33 sgo:sdDataset chapters
34 rdf:type schema:Chapter
35 N005781f1c89b45a1a48599fa29308652 schema:name dimensions_id
36 schema:value pub.1002349551
37 rdf:type schema:PropertyValue
38 N01a83a24d5364505951f6f5c726a5a77 rdf:first N675656fcf2d347808167a8bbaf18cdd8
39 rdf:rest Nc3beeed3a0104306b17823f7acdb46b1
40 N249598e89d9a455a8a5a4116435a4869 schema:familyName Van den Berghe
41 schema:givenName Georges
42 rdf:type schema:Person
43 N29b38c8d6b8c4644a10a170121966dd5 schema:name readcube_id
44 schema:value 0b2fbf5219e69dea8a8546eb3e495721d8af0b3297e12e43161bcaf63cdbfe8b
45 rdf:type schema:PropertyValue
46 N3e1febad743440598ff6093c2a2c9945 schema:familyName Fernandes
47 schema:givenName John
48 rdf:type schema:Person
49 N5fd5e5aad6e242849d6587b4bd5b72fe rdf:first N3e1febad743440598ff6093c2a2c9945
50 rdf:rest N01a83a24d5364505951f6f5c726a5a77
51 N675656fcf2d347808167a8bbaf18cdd8 schema:familyName Saudubray
52 schema:givenName Jean-Marie
53 rdf:type schema:Person
54 N69e24b92c7884a54bb1457cbafe0f01e rdf:first Na044aa454e224b9eae6b25e71fc4e133
55 rdf:rest rdf:nil
56 N89d85b3110e643aaba9f9d482715c9e3 rdf:first sg:person.011072622542.79
57 rdf:rest N97426a6734224e6894f2fe576cf99472
58 N97367d615f3143e1bb576a7e3d25f0cb schema:isbn 978-3-662-03147-6
59 978-3-662-03149-0
60 schema:name Inborn Metabolic Diseases
61 rdf:type schema:Book
62 N97426a6734224e6894f2fe576cf99472 rdf:first sg:person.0724754007.46
63 rdf:rest Ned23f94dd9154c43918f4129968b914e
64 Na044aa454e224b9eae6b25e71fc4e133 schema:familyName Buist
65 schema:givenName N. R. M.
66 rdf:type schema:Person
67 Nc3beeed3a0104306b17823f7acdb46b1 rdf:first N249598e89d9a455a8a5a4116435a4869
68 rdf:rest Ne4222c31f52f4b79af9ab4eb1e9bfafd
69 Nc9e570cb51f045ac8ae03079a475b3a8 schema:location Berlin, Heidelberg
70 schema:name Springer Berlin Heidelberg
71 rdf:type schema:Organisation
72 Nda2a077ec0674940b2667a6fbf97ecab schema:name Springer Nature - SN SciGraph project
73 rdf:type schema:Organization
74 Ne4222c31f52f4b79af9ab4eb1e9bfafd rdf:first Nfb117b028750430eb95b282b5db0c69f
75 rdf:rest N69e24b92c7884a54bb1457cbafe0f01e
76 Neb94a7c7951a4a7e8f8c8ecb974577e2 schema:name doi
77 schema:value 10.1007/978-3-662-03147-6_1
78 rdf:type schema:PropertyValue
79 Ned23f94dd9154c43918f4129968b914e rdf:first sg:person.01202227227.54
80 rdf:rest rdf:nil
81 Nfb117b028750430eb95b282b5db0c69f schema:familyName Tada
82 schema:givenName K.
83 rdf:type schema:Person
84 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
85 schema:name Biological Sciences
86 rdf:type schema:DefinedTerm
87 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
88 schema:name Genetics
89 rdf:type schema:DefinedTerm
90 sg:person.011072622542.79 schema:familyName Saudubray
91 schema:givenName J.-M.
92 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011072622542.79
93 rdf:type schema:Person
94 sg:person.01202227227.54 schema:familyName Charpentier
95 schema:givenName C.
96 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01202227227.54
97 rdf:type schema:Person
98 sg:person.0724754007.46 schema:familyName de Baulny
99 schema:givenName H. Ogier
100 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0724754007.46
101 rdf:type schema:Person
102 sg:pub.10.1007/bf01799284 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003160712
103 https://doi.org/10.1007/bf01799284
104 rdf:type schema:CreativeWork
105 https://app.dimensions.ai/details/publication/pub.1079814289 schema:CreativeWork
106 https://doi.org/10.1002/ajmg.1320470429 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010895186
107 rdf:type schema:CreativeWork
108 https://doi.org/10.1007/bf01799284 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003160712
109 rdf:type schema:CreativeWork
110 https://doi.org/10.1016/s0022-3476(86)80769-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1024170123
111 rdf:type schema:CreativeWork
112 https://doi.org/10.1016/s0031-3955(16)33599-4 schema:sameAs https://app.dimensions.ai/details/publication/pub.1005997283
113 rdf:type schema:CreativeWork
114 https://doi.org/10.1016/s0045-9380(77)80009-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013465056
115 rdf:type schema:CreativeWork
116 https://doi.org/10.1136/jmg.25.7.463 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025498371
117 rdf:type schema:CreativeWork
 




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


...