First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1989

AUTHORS

Y. S. Shin , M. Rieth , J. Tausenfreund , W. Endres

ABSTRACT

Prenatal diagnosis of glycogen storage disease (GSD) type II and type III (McKusick 23230 and 23240) has been performed by enzyme assay in cultivated amniotic fluid cells. We have also performed prenatal diagnosis by amniocentesis in about 30 at risk pregnancies for glycogen storage diseases. Recently, we have reported a case of first-trimester diagnosis of GSD type II using uncultured chorionic villous sampling (Grubisic et al., 1986). In this report, we describe further cases of first-trimester diagnosis of GSD type II in 8 pregnancies using chorionic villi, as well as one case of GSD type III. More... »

PAGES

289-291

Book

TITLE

Studies in Inherited Metabolic Disease

ISBN

978-94-010-6970-0
978-94-009-1069-0

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-94-009-1069-0_30

DOI

http://dx.doi.org/10.1007/978-94-009-1069-0_30

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1013124987


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/2008/1004", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Medical Biotechnology", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/10", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Technology", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "Universit\u00e4ts Kinderklinik, Lindwurmstrasse 4, D8\u00a0M\u00fcnchen 2, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Shin", 
        "givenName": "Y. S.", 
        "id": "sg:person.0703476261.90", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0703476261.90"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Universit\u00e4ts Kinderklinik, Lindwurmstrasse 4, D8\u00a0M\u00fcnchen 2, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rieth", 
        "givenName": "M.", 
        "id": "sg:person.01073252127.92", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01073252127.92"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Universit\u00e4ts Kinderklinik, Lindwurmstrasse 4, D8\u00a0M\u00fcnchen 2, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Tausenfreund", 
        "givenName": "J.", 
        "id": "sg:person.01260514056.60", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260514056.60"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Universit\u00e4ts Kinderklinik, Lindwurmstrasse 4, D8\u00a0M\u00fcnchen 2, Germany"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Endres", 
        "givenName": "W.", 
        "id": "sg:person.0653540415.94", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653540415.94"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1111/j.1399-0004.1986.tb00610.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1037910219"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0009-8981(85)90295-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051374797"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0009-8981(85)90295-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051374797"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1081637073", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1989", 
    "datePublishedReg": "1989-01-01", 
    "description": "Prenatal diagnosis of glycogen storage disease (GSD) type II and type III (McKusick 23230 and 23240) has been performed by enzyme assay in cultivated amniotic fluid cells. We have also performed prenatal diagnosis by amniocentesis in about 30 at risk pregnancies for glycogen storage diseases. Recently, we have reported a case of first-trimester diagnosis of GSD type II using uncultured chorionic villous sampling (Grubisic et al., 1986). In this report, we describe further cases of first-trimester diagnosis of GSD type II in 8 pregnancies using chorionic villi, as well as one case of GSD type III.", 
    "editor": [
      {
        "familyName": "Addison", 
        "givenName": "G. M.", 
        "type": "Person"
      }, 
      {
        "familyName": "Connor", 
        "givenName": "J. M.", 
        "type": "Person"
      }, 
      {
        "familyName": "Harkness", 
        "givenName": "R. A.", 
        "type": "Person"
      }, 
      {
        "familyName": "Pollitt", 
        "givenName": "R. J.", 
        "type": "Person"
      }
    ], 
    "genre": "chapter", 
    "id": "sg:pub.10.1007/978-94-009-1069-0_30", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": {
      "isbn": [
        "978-94-010-6970-0", 
        "978-94-009-1069-0"
      ], 
      "name": "Studies in Inherited Metabolic Disease", 
      "type": "Book"
    }, 
    "name": "First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III", 
    "pagination": "289-291", 
    "productId": [
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/978-94-009-1069-0_30"
        ]
      }, 
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "3e85e40c382960c6fb396e4ae8cfa318ca42aa036eea0a04db933867fd766c68"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1013124987"
        ]
      }
    ], 
    "publisher": {
      "location": "Dordrecht", 
      "name": "Springer Netherlands", 
      "type": "Organisation"
    }, 
    "sameAs": [
      "https://doi.org/10.1007/978-94-009-1069-0_30", 
      "https://app.dimensions.ai/details/publication/pub.1013124987"
    ], 
    "sdDataset": "chapters", 
    "sdDatePublished": "2019-04-15T13:26", 
    "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_8664_00000251.jsonl", 
    "type": "Chapter", 
    "url": "http://link.springer.com/10.1007/978-94-009-1069-0_30"
  }
]
 

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.10.1007/978-94-009-1069-0_30'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/978-94-009-1069-0_30'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/978-94-009-1069-0_30'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/978-94-009-1069-0_30'


 

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

114 TRIPLES      23 PREDICATES      30 URIs      20 LITERALS      8 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/978-94-009-1069-0_30 schema:about anzsrc-for:10
2 anzsrc-for:1004
3 schema:author N5c30945fac1e406588c01215c58d7419
4 schema:citation https://app.dimensions.ai/details/publication/pub.1081637073
5 https://doi.org/10.1016/0009-8981(85)90295-5
6 https://doi.org/10.1111/j.1399-0004.1986.tb00610.x
7 schema:datePublished 1989
8 schema:datePublishedReg 1989-01-01
9 schema:description Prenatal diagnosis of glycogen storage disease (GSD) type II and type III (McKusick 23230 and 23240) has been performed by enzyme assay in cultivated amniotic fluid cells. We have also performed prenatal diagnosis by amniocentesis in about 30 at risk pregnancies for glycogen storage diseases. Recently, we have reported a case of first-trimester diagnosis of GSD type II using uncultured chorionic villous sampling (Grubisic et al., 1986). In this report, we describe further cases of first-trimester diagnosis of GSD type II in 8 pregnancies using chorionic villi, as well as one case of GSD type III.
10 schema:editor N899e798c230c41faa3cea7093f939d97
11 schema:genre chapter
12 schema:inLanguage en
13 schema:isAccessibleForFree false
14 schema:isPartOf Nb2dfa741e6014d8792c682e0924b5a83
15 schema:name First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III
16 schema:pagination 289-291
17 schema:productId N811ddcac30824220a3e2aadb528892eb
18 N8f1be91d48344d30b52c0786fe0047a1
19 Nc69b415a2003421e982b9cb768b800b1
20 schema:publisher N7e4c96418c3e4031a50c9245c44fb2bb
21 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013124987
22 https://doi.org/10.1007/978-94-009-1069-0_30
23 schema:sdDatePublished 2019-04-15T13:26
24 schema:sdLicense https://scigraph.springernature.com/explorer/license/
25 schema:sdPublisher Naead252629584861816cfa147a1f98f7
26 schema:url http://link.springer.com/10.1007/978-94-009-1069-0_30
27 sgo:license sg:explorer/license/
28 sgo:sdDataset chapters
29 rdf:type schema:Chapter
30 N15e0bc53341245f298ffe60bded2d6bd schema:familyName Connor
31 schema:givenName J. M.
32 rdf:type schema:Person
33 N1d37f87071324dfba9c01a2b4a00d480 rdf:first N15e0bc53341245f298ffe60bded2d6bd
34 rdf:rest N3d52d651d639442ba512bc8f9af514ab
35 N249e4077668741e99cbfae517a46ec7f rdf:first sg:person.01260514056.60
36 rdf:rest N37cccebb3ac1402b85ce2cb0472bdd88
37 N315ac19a991d46549d130ea5e1e71de0 rdf:first N31922b078aa148bcb85041a72df52c3b
38 rdf:rest rdf:nil
39 N31922b078aa148bcb85041a72df52c3b schema:familyName Pollitt
40 schema:givenName R. J.
41 rdf:type schema:Person
42 N37cccebb3ac1402b85ce2cb0472bdd88 rdf:first sg:person.0653540415.94
43 rdf:rest rdf:nil
44 N3d52d651d639442ba512bc8f9af514ab rdf:first Nd14644088f944fb98eb79664ac317580
45 rdf:rest N315ac19a991d46549d130ea5e1e71de0
46 N5c30945fac1e406588c01215c58d7419 rdf:first sg:person.0703476261.90
47 rdf:rest Nb6f49c3d8a404f028bf784e76ee5a865
48 N637847d26ebd4aaf8cba665634ab208b schema:name Universitäts Kinderklinik, Lindwurmstrasse 4, D8 München 2, Germany
49 rdf:type schema:Organization
50 N77508ef636a1478c932a5403233a8795 schema:familyName Addison
51 schema:givenName G. M.
52 rdf:type schema:Person
53 N7e4c96418c3e4031a50c9245c44fb2bb schema:location Dordrecht
54 schema:name Springer Netherlands
55 rdf:type schema:Organisation
56 N811ddcac30824220a3e2aadb528892eb schema:name doi
57 schema:value 10.1007/978-94-009-1069-0_30
58 rdf:type schema:PropertyValue
59 N899e798c230c41faa3cea7093f939d97 rdf:first N77508ef636a1478c932a5403233a8795
60 rdf:rest N1d37f87071324dfba9c01a2b4a00d480
61 N8f1be91d48344d30b52c0786fe0047a1 schema:name readcube_id
62 schema:value 3e85e40c382960c6fb396e4ae8cfa318ca42aa036eea0a04db933867fd766c68
63 rdf:type schema:PropertyValue
64 Naead252629584861816cfa147a1f98f7 schema:name Springer Nature - SN SciGraph project
65 rdf:type schema:Organization
66 Nb2dfa741e6014d8792c682e0924b5a83 schema:isbn 978-94-009-1069-0
67 978-94-010-6970-0
68 schema:name Studies in Inherited Metabolic Disease
69 rdf:type schema:Book
70 Nb6f49c3d8a404f028bf784e76ee5a865 rdf:first sg:person.01073252127.92
71 rdf:rest N249e4077668741e99cbfae517a46ec7f
72 Nb8ee4e4f77aa4982bf76fc09080c61b7 schema:name Universitäts Kinderklinik, Lindwurmstrasse 4, D8 München 2, Germany
73 rdf:type schema:Organization
74 Nc69b415a2003421e982b9cb768b800b1 schema:name dimensions_id
75 schema:value pub.1013124987
76 rdf:type schema:PropertyValue
77 Nd14644088f944fb98eb79664ac317580 schema:familyName Harkness
78 schema:givenName R. A.
79 rdf:type schema:Person
80 Nf0d84b74d3614a60baa34670ab6dca56 schema:name Universitäts Kinderklinik, Lindwurmstrasse 4, D8 München 2, Germany
81 rdf:type schema:Organization
82 Nf72ee44ab65a4f51a32e978cbc9d5cbd schema:name Universitäts Kinderklinik, Lindwurmstrasse 4, D8 München 2, Germany
83 rdf:type schema:Organization
84 anzsrc-for:10 schema:inDefinedTermSet anzsrc-for:
85 schema:name Technology
86 rdf:type schema:DefinedTerm
87 anzsrc-for:1004 schema:inDefinedTermSet anzsrc-for:
88 schema:name Medical Biotechnology
89 rdf:type schema:DefinedTerm
90 sg:person.01073252127.92 schema:affiliation Nf0d84b74d3614a60baa34670ab6dca56
91 schema:familyName Rieth
92 schema:givenName M.
93 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01073252127.92
94 rdf:type schema:Person
95 sg:person.01260514056.60 schema:affiliation Nf72ee44ab65a4f51a32e978cbc9d5cbd
96 schema:familyName Tausenfreund
97 schema:givenName J.
98 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01260514056.60
99 rdf:type schema:Person
100 sg:person.0653540415.94 schema:affiliation N637847d26ebd4aaf8cba665634ab208b
101 schema:familyName Endres
102 schema:givenName W.
103 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0653540415.94
104 rdf:type schema:Person
105 sg:person.0703476261.90 schema:affiliation Nb8ee4e4f77aa4982bf76fc09080c61b7
106 schema:familyName Shin
107 schema:givenName Y. S.
108 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0703476261.90
109 rdf:type schema:Person
110 https://app.dimensions.ai/details/publication/pub.1081637073 schema:CreativeWork
111 https://doi.org/10.1016/0009-8981(85)90295-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051374797
112 rdf:type schema:CreativeWork
113 https://doi.org/10.1111/j.1399-0004.1986.tb00610.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1037910219
114 rdf:type schema:CreativeWork
 




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


...