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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1984-3-8
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pubmed:abstractText |
We describe a method of screening for dihydropteridine reductase deficiency and dihydrobiopterin synthesis deficiency--the two inherited defects that cause tetrahydrobiopterin deficiency--using blood spots on Guthrie cards. Dihydropteridine reductase deficiency may be identified positively, and a biopterin value of less than 6.0 micrograms/l in the presence of hyperphenylalaninaemia indicates further investigation for dihydrobiopterin synthesis deficiency.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-1008581,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-1160969,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-4405451,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-49470,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-5294952,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-53531,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-54629,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-6349574,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-683251,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-7005193,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-7110817,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-7322696,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-7452296,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-84153,
http://linkedlifedata.com/resource/pubmed/commentcorrection/6696496-932231
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1468-2044
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
59
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
58-61
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:6696496-Adolescent,
pubmed-meshheading:6696496-Adult,
pubmed-meshheading:6696496-Biopterin,
pubmed-meshheading:6696496-Child,
pubmed-meshheading:6696496-Child, Preschool,
pubmed-meshheading:6696496-Dihydropteridine Reductase,
pubmed-meshheading:6696496-Humans,
pubmed-meshheading:6696496-Infant, Newborn,
pubmed-meshheading:6696496-Methods,
pubmed-meshheading:6696496-Phenylalanine,
pubmed-meshheading:6696496-Phenylketonurias,
pubmed-meshheading:6696496-Pteridines,
pubmed-meshheading:6696496-Specimen Handling
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pubmed:year |
1984
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pubmed:articleTitle |
Blood spots on Guthrie cards can be used for inherited tetrahydrobiopterin deficiency screening in hyperphenylalaninaemic infants.
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pubmed:publicationType |
Journal Article
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