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9266361
Source:
http://linkedlifedata.com/resource/pubmed/id/9266361
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61
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0002085
,
umls-concept:C0017337
,
umls-concept:C0017816
,
umls-concept:C0019425
,
umls-concept:C0026882
,
umls-concept:C0061510
,
umls-concept:C0205198
,
umls-concept:C0205251
,
umls-concept:C0221102
,
umls-concept:C0332281
,
umls-concept:C1880497
,
umls-concept:C1996904
pubmed:issue
3
pubmed:dateCreated
1997-11-28
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/7910918
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Glutarates
,
http://linkedlifedata.com/resource/pubmed/chemical/Glutaryl-CoA Dehydrogenase
,
http://linkedlifedata.com/resource/pubmed/chemical/Oxidoreductases
,
http://linkedlifedata.com/resource/pubmed/chemical/Oxidoreductases Acting on CH-CH...
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0141-8955
pubmed:author
pubmed-author:BusquetsCC
,
pubmed-author:ChristensenEE
,
pubmed-author:DuranMM
,
pubmed-author:GreenbergC RCR
,
pubmed-author:LeffersHH
,
pubmed-author:PinedaMM
,
pubmed-author:Poll-TheB TBT
,
pubmed-author:RibesAA
,
pubmed-author:SchwartzMM
pubmed:issnType
Print
pubmed:volume
20
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
383-6
pubmed:dateRevised
2007-3-21
pubmed:meshHeading
pubmed-meshheading:9266361-Alleles
,
pubmed-meshheading:9266361-Amino Acid Metabolism, Inborn Errors
,
pubmed-meshheading:9266361-DNA Mutational Analysis
,
pubmed-meshheading:9266361-Family
,
pubmed-meshheading:9266361-Female
,
pubmed-meshheading:9266361-Glutarates
,
pubmed-meshheading:9266361-Glutaryl-CoA Dehydrogenase
,
pubmed-meshheading:9266361-Humans
,
pubmed-meshheading:9266361-Infant
,
pubmed-meshheading:9266361-Male
,
pubmed-meshheading:9266361-Mutation
,
pubmed-meshheading:9266361-Netherlands
,
pubmed-meshheading:9266361-Oxidoreductases
,
pubmed-meshheading:9266361-Oxidoreductases Acting on CH-CH Group Donors
,
pubmed-meshheading:9266361-Polymerase Chain Reaction
,
pubmed-meshheading:9266361-Spain
pubmed:year
1997
pubmed:articleTitle
Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion.
pubmed:affiliation
Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark.
pubmed:publicationType
Journal Article
,
Case Reports