Ontology type: schema:ScholarlyArticle
1998-03
AUTHORSH. Ogier de Baulny, M. Gérard, J. M. Saudubray, J. Zittoun
ABSTRACTThe main remethylation defects include disorders which all have defective methionine synthesis in common. Methylenetetrahydrofolate reductase deficiency impairs methyltetrahydrofolate synthesis, defects in cytosolic reduction of hydroxocobalamin (CblC/D) impair the synthesis of both methyl- and adenosyl cobalamin and deficiencies of methionine synthase (CblE/G) are associated with defective methyl cobalamin synthesis. The clinical presentation is characterized by acute neurological distress in early infancy. In childhood, patients present with progressive encephalopathy with an end-stage which has many signs in common with the adult onset form. In fact, both have more or less severe signs of subacute degeneration of the cord. Cobalamin defective patients must be treated with parenteral supplementation of hydroxocobalamin (1-2 mg per dose). Some methylenetetrahydrofolate patients could be folate responsive and must have a high-dosage folate trial. In addition, oral betaine supplementation (2-9 g per day depending on age) appears an effective means to prevent further neurological deterioration. More... »
PAGESs77-s83
http://scigraph.springernature.com/pub.10.1007/pl00014307
DOIhttp://dx.doi.org/10.1007/pl00014307
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"type": "PropertyValue",
"value": [
"pub.1015300981"
]
}
],
"sameAs": [
"https://doi.org/10.1007/pl00014307",
"https://app.dimensions.ai/details/publication/pub.1015300981"
],
"sdDataset": "articles",
"sdDatePublished": "2019-04-11T00:10",
"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_8695_00000487.jsonl",
"type": "ScholarlyArticle",
"url": "http://link.springer.com/10.1007/PL00014307"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
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/pl00014307'
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/pl00014307'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/pl00014307'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/pl00014307'
This table displays all metadata directly associated to this object as RDF triples.
330 TRIPLES
21 PREDICATES
97 URIs
39 LITERALS
27 BLANK NODES