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10896281
Source:
http://linkedlifedata.com/resource/pubmed/id/10896281
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55
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0003775
,
umls-concept:C0026882
,
umls-concept:C0035687
,
umls-concept:C0086418
,
umls-concept:C0205250
,
umls-concept:C0205314
,
umls-concept:C0268547
,
umls-concept:C0332120
,
umls-concept:C0439828
,
umls-concept:C0679622
,
umls-concept:C1334456
pubmed:issue
4
pubmed:dateCreated
2000-11-16
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/7910918
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Arginine
,
http://linkedlifedata.com/resource/pubmed/chemical/Argininosuccinate Lyase
,
http://linkedlifedata.com/resource/pubmed/chemical/Argininosuccinic Acid
,
http://linkedlifedata.com/resource/pubmed/chemical/Sodium Benzoate
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0141-8955
pubmed:author
pubmed-author:HarmsEE
,
pubmed-author:HombergerAA
,
pubmed-author:KochH GHG
,
pubmed-author:LinnebankMM
,
pubmed-author:MarquardtTT
,
pubmed-author:RappBB
,
pubmed-author:WinterCC
pubmed:issnType
Print
pubmed:volume
23
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
308-12
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed-meshheading:10896281-Amino Acid Metabolism, Inborn Errors
,
pubmed-meshheading:10896281-Arginine
,
pubmed-meshheading:10896281-Argininosuccinate Lyase
,
pubmed-meshheading:10896281-Argininosuccinic Acid
,
pubmed-meshheading:10896281-Argininosuccinic Aciduria
,
pubmed-meshheading:10896281-Child, Preschool
,
pubmed-meshheading:10896281-Hepatomegaly
,
pubmed-meshheading:10896281-Humans
,
pubmed-meshheading:10896281-Hyperammonemia
,
pubmed-meshheading:10896281-Point Mutation
,
pubmed-meshheading:10896281-Psychomotor Disorders
,
pubmed-meshheading:10896281-RNA Splicing
,
pubmed-meshheading:10896281-Sodium Benzoate
pubmed:year
2000
pubmed:articleTitle
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene.
pubmed:affiliation
Universität Kinderklinik Muenster, Germany.
pubmed:publicationType
Journal Article
,
Case Reports