Resource:International Database of Tetrahydrobiopterin Deficiencies
|Name:||Resource:International Database of Tetrahydrobiopterin Deficiencies|
The BIODEF database have tabulated the most common clinical and laboratory data related to hyperphenylalaninaemia and tetrahydrobiopterin deficiencies. Additionally, there are data regarding treatment, outcome, and DNA analysis.
|Keywords:||ethnic, frequency, 6-pyruvoyltetrahydropterin synthase deficiency, analysis, bh4, clinical, deficiency, demographic, diagnosis, dihydropteridine reductase deficiency, dna, gtp cyclohydrolase i deficiency, hyperphenylalaninaemia, measurement, neonatal, origin, outcome, pterin, pterin-4a-carbinolamine dehydratase deficiency, sex, tetrahydrobiopterin, treatment, urine|
|Link to OWL / RDF:||Download this content as OWL/RDF|
Curation status: Curated
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The BIODEF database have tabulated …
his website is supported by Biomarin
|Has default formThis property is a special property in this wiki.||Resource +|
|Has role||Database +|
|Keywords||Ethnic +, Frequency +, 6-pyruvoyltetrahydropterin synthase deficiency +, Analysis +, Bh4 +, Clinical +, Deficiency +, Demographic +, Diagnosis +, Dihydropteridine reductase deficiency +, Dna +, Gtp cyclohydrolase i deficiency +, Hyperphenylalaninaemia +, Measurement +, Neonatal +, Origin +, Outcome +, Pterin +, Pterin-4a-carbinolamine dehydratase deficiency +, Sex +, Tetrahydrobiopterin +, Treatment +, and Urine +|
|Label||Resource:International Database of Tetrahydrobiopterin Deficiencies +|
|ModifiedDate||13 October 2010 +|