Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1988-02

AUTHORS

J. L. Dhondt, P. Guibaud, M. O. Rolland, C. Dorche, S. Andre, G. Forzy, J. M. Hayte

ABSTRACT

Systematic investigation of hyperphenylalaninaemic infants for tetrahydrobiopterin deficiency has recently led to the description of new variants of cofactor deficiency. In the present case, the initial observation was of hyperphenylalaninaemia with a significant increase in the neopterin to biopterin ratio in the urine. A tetrahydrobiopterin loading test resulted in a significant decrease of blood phenylalanine levels. Cerebrospinal fluid (CSF) biopterin and neurotransmitter metabolite levels were within the normal range. The in vivo clearance of phenylalanine remained altered despite a high dietary tolerance. At 9 months of age, the patient was clinically well, but minor neurological signs appeared when blood phenylalanine levels increased. These data were similar to those found in the so-called "peripheral form" of tetrahydrobiopterin deficiency. However, an unidentified pteridine-like compound had been found in the urine and CSF since the birth, suggesting the existence of an unknown block in the biosynthetic pathway of biopterin. More... »

PAGES

153-157

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf00442213

DOI

http://dx.doi.org/10.1007/bf00442213

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1036211457

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/3366132


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/2008/1103", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Clinical Sciences", 
        "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": "Biogenic Amines", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Biopterin", 
        "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": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Metabolism, Inborn Errors", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Neopterin", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenylalanine", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "name": [
            "Laboratoire de Biochimie, Facult\u00e9 Libre de M\u00e9decine, 56 rue du Port, F-59046, Lille C\u00e9dex, 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"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Debrousse", 
          "id": "https://www.grid.ac/institutes/grid.413959.3", 
          "name": [
            "Centre d'Etude des Maladies M\u00e9taboliques, H\u00f4pital Debrousse, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Guibaud", 
        "givenName": "P.", 
        "id": "sg:person.012721613754.43", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012721613754.43"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Debrousse", 
          "id": "https://www.grid.ac/institutes/grid.413959.3", 
          "name": [
            "Centre d'Etude des Maladies M\u00e9taboliques, H\u00f4pital Debrousse, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Rolland", 
        "givenName": "M. O.", 
        "id": "sg:person.01322234564.36", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322234564.36"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Debrousse", 
          "id": "https://www.grid.ac/institutes/grid.413959.3", 
          "name": [
            "Centre d'Etude des Maladies M\u00e9taboliques, H\u00f4pital Debrousse, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Dorche", 
        "givenName": "C.", 
        "id": "sg:person.01151622511.39", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01151622511.39"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "H\u00f4pital Debrousse", 
          "id": "https://www.grid.ac/institutes/grid.413959.3", 
          "name": [
            "Centre d'Etude des Maladies M\u00e9taboliques, H\u00f4pital Debrousse, Lyon, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Andre", 
        "givenName": "S.", 
        "id": "sg:person.01233000515.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233000515.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Laboratoire de Biochimie, Facult\u00e9 Libre de M\u00e9decine, 56 rue du Port, F-59046, Lille C\u00e9dex, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Forzy", 
        "givenName": "G.", 
        "id": "sg:person.01056467022.34", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056467022.34"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "Laboratoire de Biochimie, Facult\u00e9 Libre de M\u00e9decine, 56 rue du Port, F-59046, Lille C\u00e9dex, France"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hayte", 
        "givenName": "J. M.", 
        "id": "sg:person.01313705341.47", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313705341.47"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/0009-8981(81)90349-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001940699"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0009-8981(81)90349-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001940699"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf01819290", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010133708", 
          "https://doi.org/10.1007/bf01819290"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1007/bf01819290", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010133708"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0009-8981(81)90017-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013351022"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/0009-8981(81)90017-6", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1013351022"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1203/00006450-198203000-00006", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1014026365", 
          "https://doi.org/10.1203/00006450-198203000-00006"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/adc.49.3.245-b", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015457612"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1442-200x.1984.tb01863.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1017076299"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0006-291x(86)80468-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1019013587"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0140-6736(74)90337-7", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036647470"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(85)80160-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039862025"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(84)80551-x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1042215621"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0022-3476(84)80537-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043469846"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00491917", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043670175", 
          "https://doi.org/10.1007/bf00491917"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00491917", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043670175", 
          "https://doi.org/10.1007/bf00491917"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00496797", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044656592", 
          "https://doi.org/10.1007/bf00496797"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/bf00496797", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1044656592", 
          "https://doi.org/10.1007/bf00496797"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ana.410080106", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1051817148"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://app.dimensions.ai/details/publication/pub.1081590541", 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "1988-02", 
    "datePublishedReg": "1988-02-01", 
    "description": "Systematic investigation of hyperphenylalaninaemic infants for tetrahydrobiopterin deficiency has recently led to the description of new variants of cofactor deficiency. In the present case, the initial observation was of hyperphenylalaninaemia with a significant increase in the neopterin to biopterin ratio in the urine. A tetrahydrobiopterin loading test resulted in a significant decrease of blood phenylalanine levels. Cerebrospinal fluid (CSF) biopterin and neurotransmitter metabolite levels were within the normal range. The in vivo clearance of phenylalanine remained altered despite a high dietary tolerance. At 9 months of age, the patient was clinically well, but minor neurological signs appeared when blood phenylalanine levels increased. These data were similar to those found in the so-called \"peripheral form\" of tetrahydrobiopterin deficiency. However, an unidentified pteridine-like compound had been found in the urine and CSF since the birth, suggesting the existence of an unknown block in the biosynthetic pathway of biopterin.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/bf00442213", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1017354", 
        "issn": [
          "0340-6199", 
          "1432-1076"
        ], 
        "name": "European Journal of Pediatrics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "2", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "147"
      }
    ], 
    "name": "Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency", 
    "pagination": "153-157", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "ac7ed79980353c4bf2557f328a7f909440508ba66be57c43bce06e95eb1b2dc7"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "3366132"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "7603873"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/bf00442213"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1036211457"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/bf00442213", 
      "https://app.dimensions.ai/details/publication/pub.1036211457"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T13:55", 
    "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/v90/0000000371_0000000371/records_130814_00000003.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "http://link.springer.com/10.1007/BF00442213"
  }
]
 

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/bf00442213'

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/bf00442213'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf00442213'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf00442213'


 

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

200 TRIPLES      21 PREDICATES      53 URIs      29 LITERALS      17 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/bf00442213 schema:about N06dd185f9b5246f49385f7a3aa85fca1
2 N08e57f340a5c453687d41d63b8d77d89
3 N0d0a72af934c4942b304e761af8a0b24
4 N70ddf8bc8cd341858571290eea5d64d0
5 N8fab5e20598a489bbec89ece7dae6fc4
6 N91be5a1983994ddb9398231c38db5795
7 Na37b8ec42c0a444ba0f668cc139e7d56
8 Nd1c51b136e4c4bf88006e226676a9f7c
9 anzsrc-for:11
10 anzsrc-for:1103
11 schema:author Na7fcb5184d624254a77bdcde05e9a054
12 schema:citation sg:pub.10.1007/bf00491917
13 sg:pub.10.1007/bf00496797
14 sg:pub.10.1007/bf01819290
15 sg:pub.10.1203/00006450-198203000-00006
16 https://app.dimensions.ai/details/publication/pub.1081590541
17 https://doi.org/10.1002/ana.410080106
18 https://doi.org/10.1007/bf01819290
19 https://doi.org/10.1016/0009-8981(81)90017-6
20 https://doi.org/10.1016/0009-8981(81)90349-1
21 https://doi.org/10.1016/s0006-291x(86)80468-5
22 https://doi.org/10.1016/s0022-3476(84)80537-5
23 https://doi.org/10.1016/s0022-3476(84)80551-x
24 https://doi.org/10.1016/s0022-3476(85)80160-8
25 https://doi.org/10.1016/s0140-6736(74)90337-7
26 https://doi.org/10.1111/j.1442-200x.1984.tb01863.x
27 https://doi.org/10.1136/adc.49.3.245-b
28 schema:datePublished 1988-02
29 schema:datePublishedReg 1988-02-01
30 schema:description Systematic investigation of hyperphenylalaninaemic infants for tetrahydrobiopterin deficiency has recently led to the description of new variants of cofactor deficiency. In the present case, the initial observation was of hyperphenylalaninaemia with a significant increase in the neopterin to biopterin ratio in the urine. A tetrahydrobiopterin loading test resulted in a significant decrease of blood phenylalanine levels. Cerebrospinal fluid (CSF) biopterin and neurotransmitter metabolite levels were within the normal range. The in vivo clearance of phenylalanine remained altered despite a high dietary tolerance. At 9 months of age, the patient was clinically well, but minor neurological signs appeared when blood phenylalanine levels increased. These data were similar to those found in the so-called "peripheral form" of tetrahydrobiopterin deficiency. However, an unidentified pteridine-like compound had been found in the urine and CSF since the birth, suggesting the existence of an unknown block in the biosynthetic pathway of biopterin.
31 schema:genre research_article
32 schema:inLanguage en
33 schema:isAccessibleForFree false
34 schema:isPartOf N15fb48f69801428f821de5edbb491fc3
35 N3ffd059beba44bb585a2d731713f880f
36 sg:journal.1017354
37 schema:name Neonatal hyperphenylalaninaemia presumably caused by a new variant of biopterin synthetase defieiency
38 schema:pagination 153-157
39 schema:productId Na4be95ad190546efb739a64c3ed2e2c5
40 Nbd035d9973374c23858611d709b1b71e
41 Nd7f75f6fdc1e4fb3b9236c5b22263c21
42 Ne94c52ec8db046bbb36428f4b42ed107
43 Nfada27975d484bf999a1e95035f92a21
44 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036211457
45 https://doi.org/10.1007/bf00442213
46 schema:sdDatePublished 2019-04-11T13:55
47 schema:sdLicense https://scigraph.springernature.com/explorer/license/
48 schema:sdPublisher Ne605dd4223d04ea5b450ad20a4fe1000
49 schema:url http://link.springer.com/10.1007/BF00442213
50 sgo:license sg:explorer/license/
51 sgo:sdDataset articles
52 rdf:type schema:ScholarlyArticle
53 N06dd185f9b5246f49385f7a3aa85fca1 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
54 schema:name Male
55 rdf:type schema:DefinedTerm
56 N08e57f340a5c453687d41d63b8d77d89 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
57 schema:name Biopterin
58 rdf:type schema:DefinedTerm
59 N0d0a72af934c4942b304e761af8a0b24 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
60 schema:name Metabolism, Inborn Errors
61 rdf:type schema:DefinedTerm
62 N11f894a069624a7d95da731e73218c2c rdf:first sg:person.01322234564.36
63 rdf:rest N93bcf24a71e4469fbc0ee378efcdeb92
64 N15fb48f69801428f821de5edbb491fc3 schema:issueNumber 2
65 rdf:type schema:PublicationIssue
66 N233039caa8f54e11b155f2ee5d8a069f rdf:first sg:person.01313705341.47
67 rdf:rest rdf:nil
68 N39dac043191f4a719452f0224685e421 rdf:first sg:person.012721613754.43
69 rdf:rest N11f894a069624a7d95da731e73218c2c
70 N3ffd059beba44bb585a2d731713f880f schema:volumeNumber 147
71 rdf:type schema:PublicationVolume
72 N70ddf8bc8cd341858571290eea5d64d0 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
73 schema:name Infant, Newborn
74 rdf:type schema:DefinedTerm
75 N822605c8a8454d949d0c1e1879a65fc6 schema:name Laboratoire de Biochimie, Faculté Libre de Médecine, 56 rue du Port, F-59046, Lille Cédex, France
76 rdf:type schema:Organization
77 N8fab5e20598a489bbec89ece7dae6fc4 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
78 schema:name Biogenic Amines
79 rdf:type schema:DefinedTerm
80 N9012184b26e640f6a226f05541510211 schema:name Laboratoire de Biochimie, Faculté Libre de Médecine, 56 rue du Port, F-59046, Lille Cédex, France
81 rdf:type schema:Organization
82 N90bacd0953d04a18a09a6d761d23304e rdf:first sg:person.01233000515.19
83 rdf:rest Nac3e8f16da1147eea66f7489c4f81b14
84 N91be5a1983994ddb9398231c38db5795 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
85 schema:name Neopterin
86 rdf:type schema:DefinedTerm
87 N93bcf24a71e4469fbc0ee378efcdeb92 rdf:first sg:person.01151622511.39
88 rdf:rest N90bacd0953d04a18a09a6d761d23304e
89 Na37b8ec42c0a444ba0f668cc139e7d56 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
90 schema:name Humans
91 rdf:type schema:DefinedTerm
92 Na4be95ad190546efb739a64c3ed2e2c5 schema:name doi
93 schema:value 10.1007/bf00442213
94 rdf:type schema:PropertyValue
95 Na7fcb5184d624254a77bdcde05e9a054 rdf:first sg:person.0100226714.64
96 rdf:rest N39dac043191f4a719452f0224685e421
97 Nac3e8f16da1147eea66f7489c4f81b14 rdf:first sg:person.01056467022.34
98 rdf:rest N233039caa8f54e11b155f2ee5d8a069f
99 Nbd035d9973374c23858611d709b1b71e schema:name readcube_id
100 schema:value ac7ed79980353c4bf2557f328a7f909440508ba66be57c43bce06e95eb1b2dc7
101 rdf:type schema:PropertyValue
102 Nd1c51b136e4c4bf88006e226676a9f7c schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
103 schema:name Phenylalanine
104 rdf:type schema:DefinedTerm
105 Nd7f75f6fdc1e4fb3b9236c5b22263c21 schema:name pubmed_id
106 schema:value 3366132
107 rdf:type schema:PropertyValue
108 Ndca1cab828b94a14b7e7dd366534c2bd schema:name Laboratoire de Biochimie, Faculté Libre de Médecine, 56 rue du Port, F-59046, Lille Cédex, France
109 rdf:type schema:Organization
110 Ne605dd4223d04ea5b450ad20a4fe1000 schema:name Springer Nature - SN SciGraph project
111 rdf:type schema:Organization
112 Ne94c52ec8db046bbb36428f4b42ed107 schema:name nlm_unique_id
113 schema:value 7603873
114 rdf:type schema:PropertyValue
115 Nfada27975d484bf999a1e95035f92a21 schema:name dimensions_id
116 schema:value pub.1036211457
117 rdf:type schema:PropertyValue
118 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
119 schema:name Medical and Health Sciences
120 rdf:type schema:DefinedTerm
121 anzsrc-for:1103 schema:inDefinedTermSet anzsrc-for:
122 schema:name Clinical Sciences
123 rdf:type schema:DefinedTerm
124 sg:journal.1017354 schema:issn 0340-6199
125 1432-1076
126 schema:name European Journal of Pediatrics
127 rdf:type schema:Periodical
128 sg:person.0100226714.64 schema:affiliation Ndca1cab828b94a14b7e7dd366534c2bd
129 schema:familyName Dhondt
130 schema:givenName J. L.
131 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0100226714.64
132 rdf:type schema:Person
133 sg:person.01056467022.34 schema:affiliation N822605c8a8454d949d0c1e1879a65fc6
134 schema:familyName Forzy
135 schema:givenName G.
136 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01056467022.34
137 rdf:type schema:Person
138 sg:person.01151622511.39 schema:affiliation https://www.grid.ac/institutes/grid.413959.3
139 schema:familyName Dorche
140 schema:givenName C.
141 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01151622511.39
142 rdf:type schema:Person
143 sg:person.01233000515.19 schema:affiliation https://www.grid.ac/institutes/grid.413959.3
144 schema:familyName Andre
145 schema:givenName S.
146 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01233000515.19
147 rdf:type schema:Person
148 sg:person.012721613754.43 schema:affiliation https://www.grid.ac/institutes/grid.413959.3
149 schema:familyName Guibaud
150 schema:givenName P.
151 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012721613754.43
152 rdf:type schema:Person
153 sg:person.01313705341.47 schema:affiliation N9012184b26e640f6a226f05541510211
154 schema:familyName Hayte
155 schema:givenName J. M.
156 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01313705341.47
157 rdf:type schema:Person
158 sg:person.01322234564.36 schema:affiliation https://www.grid.ac/institutes/grid.413959.3
159 schema:familyName Rolland
160 schema:givenName M. O.
161 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322234564.36
162 rdf:type schema:Person
163 sg:pub.10.1007/bf00491917 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043670175
164 https://doi.org/10.1007/bf00491917
165 rdf:type schema:CreativeWork
166 sg:pub.10.1007/bf00496797 schema:sameAs https://app.dimensions.ai/details/publication/pub.1044656592
167 https://doi.org/10.1007/bf00496797
168 rdf:type schema:CreativeWork
169 sg:pub.10.1007/bf01819290 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010133708
170 https://doi.org/10.1007/bf01819290
171 rdf:type schema:CreativeWork
172 sg:pub.10.1203/00006450-198203000-00006 schema:sameAs https://app.dimensions.ai/details/publication/pub.1014026365
173 https://doi.org/10.1203/00006450-198203000-00006
174 rdf:type schema:CreativeWork
175 https://app.dimensions.ai/details/publication/pub.1081590541 schema:CreativeWork
176 https://doi.org/10.1002/ana.410080106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1051817148
177 rdf:type schema:CreativeWork
178 https://doi.org/10.1007/bf01819290 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010133708
179 rdf:type schema:CreativeWork
180 https://doi.org/10.1016/0009-8981(81)90017-6 schema:sameAs https://app.dimensions.ai/details/publication/pub.1013351022
181 rdf:type schema:CreativeWork
182 https://doi.org/10.1016/0009-8981(81)90349-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001940699
183 rdf:type schema:CreativeWork
184 https://doi.org/10.1016/s0006-291x(86)80468-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1019013587
185 rdf:type schema:CreativeWork
186 https://doi.org/10.1016/s0022-3476(84)80537-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043469846
187 rdf:type schema:CreativeWork
188 https://doi.org/10.1016/s0022-3476(84)80551-x schema:sameAs https://app.dimensions.ai/details/publication/pub.1042215621
189 rdf:type schema:CreativeWork
190 https://doi.org/10.1016/s0022-3476(85)80160-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039862025
191 rdf:type schema:CreativeWork
192 https://doi.org/10.1016/s0140-6736(74)90337-7 schema:sameAs https://app.dimensions.ai/details/publication/pub.1036647470
193 rdf:type schema:CreativeWork
194 https://doi.org/10.1111/j.1442-200x.1984.tb01863.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1017076299
195 rdf:type schema:CreativeWork
196 https://doi.org/10.1136/adc.49.3.245-b schema:sameAs https://app.dimensions.ai/details/publication/pub.1015457612
197 rdf:type schema:CreativeWork
198 https://www.grid.ac/institutes/grid.413959.3 schema:alternateName Hôpital Debrousse
199 schema:name Centre d'Etude des Maladies Métaboliques, Hôpital Debrousse, Lyon, France
200 rdf:type schema:Organization
 




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


...