Matches in DBpedia 2016-04 for { <http://wikidata.dbpedia.org/resource/Q4641554> ?p ?o }
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- Q4641554 subject Q15127406.
- Q4641554 subject Q6902466.
- Q4641554 subject Q7215445.
- Q4641554 abstract "6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.It belongs to the rare diseases. It is a recessive disorder that is accompanied by hyperphenylalaninemia. Commonly reported symptoms are initial truncal hypotonia, subsequent appendicular hypertonia, bradykinesia, cogwheel rigidity, generalized dystonia, and marked diurnal fluctuation. Other reported clinical features include difficulty in swallowing, oculogyric crises, somnolence, irritability, hyperthermia, and seizures. Chorea, athetosis, hypersalivation, rash with eczema, and sudden death have also been reported. Patients with mild phenotypes may deteriorate if given folate antagonists such as methotrexate, which can interfere with a salvage pathway through which dihydrobiopterin is converted into tetrahydrobiopterin via dihydrofolate reductase. Treatment options include substitution with neurotransmitter precursors (levodopa, 5-hydroxytryptophan), monoamine oxidase inhibitors, and tetrahydrobiopterin. Response to treatment is variable and the long-term and functional outcome is unknown. To provide a basis for improving the understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry was established by the noncommercial International Working Group on Neurotransmitter Related Disorders (iNTD).".
- Q4641554 wikiPageWikiLink Q1076421.
- Q4641554 wikiPageWikiLink Q1077823.
- Q4641554 wikiPageWikiLink Q143873.
- Q4641554 wikiPageWikiLink Q14819367.
- Q4641554 wikiPageWikiLink Q15127406.
- Q4641554 wikiPageWikiLink Q1641350.
- Q4641554 wikiPageWikiLink Q1753547.
- Q4641554 wikiPageWikiLink Q229256.
- Q4641554 wikiPageWikiLink Q238544.
- Q4641554 wikiPageWikiLink Q242165.
- Q4641554 wikiPageWikiLink Q29299.
- Q4641554 wikiPageWikiLink Q300989.
- Q4641554 wikiPageWikiLink Q403326.
- Q4641554 wikiPageWikiLink Q410954.
- Q4641554 wikiPageWikiLink Q419808.
- Q4641554 wikiPageWikiLink Q422232.
- Q4641554 wikiPageWikiLink Q4333327.
- Q4641554 wikiPageWikiLink Q4641574.
- Q4641554 wikiPageWikiLink Q4774725.
- Q4641554 wikiPageWikiLink Q5276421.
- Q4641554 wikiPageWikiLink Q574942.
- Q4641554 wikiPageWikiLink Q5958471.
- Q4641554 wikiPageWikiLink Q6279182.
- Q4641554 wikiPageWikiLink Q6902466.
- Q4641554 wikiPageWikiLink Q7215445.
- Q4641554 wikiPageWikiLink Q755524.
- Q4641554 wikiPageWikiLink Q761862.
- Q4641554 wikiPageWikiLink Q7706537.
- Q4641554 wikiPageWikiLink Q906492.
- Q4641554 comment "6-Pyruvoyltetrahydropterin synthase deficiency is an autosomal recessive disorder that causes malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency.It belongs to the rare diseases. It is a recessive disorder that is accompanied by hyperphenylalaninemia. Commonly reported symptoms are initial truncal hypotonia, subsequent appendicular hypertonia, bradykinesia, cogwheel rigidity, generalized dystonia, and marked diurnal fluctuation.".
- Q4641554 label "6-Pyruvoyltetrahydropterin synthase deficiency".