Matches in DBpedia 2016-04 for { <http://dbpedia.org/resource/Sepiapterin_reductase_deficiency> ?p ?o }
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- Sepiapterin_reductase_deficiency abstract "Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary sustained muscle contractions known as dystonia. Symptoms are usually present within the first year of age, but diagnosis is delayed due to physicians lack of awareness and the specialized diagnostic procedures. Individuals with this disorder also have delayed motor skills development including sitting, crawling, and need assistance when walking. Additional symptoms of this disorder include intellectual disability, excessive sleeping, mood swings, and an abnormally small head size. SR deficiency is a very rare condition. The first case was diagnosed in 2001, and since then there have been approximately 30 reported cases. At this time, the condition seems to be treatable, but due to a lack of overall awareness and a series of atypical procedures used to diagnose this condition pose a dilemma.".
- Sepiapterin_reductase_deficiency wikiPageExternalLink sepiapterin-reductase-deficiency.
- Sepiapterin_reductase_deficiency wikiPageExternalLink SPR.htm.
- Sepiapterin_reductase_deficiency wikiPageExternalLink Sepiapterin_reductase_deficiency.aspx.
- Sepiapterin_reductase_deficiency wikiPageExternalLink CHILDx%202009%20Hyland.pdf.
- Sepiapterin_reductase_deficiency wikiPageExternalLink What_Are_PNDs.htm.
- Sepiapterin_reductase_deficiency wikiPageID "37691693".
- Sepiapterin_reductase_deficiency wikiPageLength "15281".
- Sepiapterin_reductase_deficiency wikiPageOutDegree "42".
- Sepiapterin_reductase_deficiency wikiPageRevisionID "603146703".
- Sepiapterin_reductase_deficiency wikiPageWikiLink Ataxia.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Biochemistry.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Biogenic_amine.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Biopterin.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Carbidopa.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Category:Neuroscience.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Category:Neurotransmitters.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Category:Pediatrics.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Cerebral_palsy.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Cerebrospinal_fluid.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Dominance_(genetics).
- Sepiapterin_reductase_deficiency wikiPageWikiLink Dopamine.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Dysarthria.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Dystonia.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Enzyme.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Exome_sequencing.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Exon.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Fibroblast.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Gene_targeting.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Genome.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Homogeneity_and_heterogeneity.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Homovanillic_acid.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Hypotonia.
- Sepiapterin_reductase_deficiency wikiPageWikiLink L-DOPA.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Methylmalonic_acidemia.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Neopterin.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Neurotransmitter.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Nucleotide.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Oculogyric_crisis.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Parkinsonism.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Parkinsons_disease.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Phenotype.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Point_mutation.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Pterin.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Sepiapterin_reductase.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Serotonin.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Succinic_semialdehyde_dehydrogenase_deficiency.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Tetrahydrobiopterin.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Tyrosine_hydroxylase.
- Sepiapterin_reductase_deficiency wikiPageWikiLink Zygosity.
- Sepiapterin_reductase_deficiency wikiPageWikiLinkText "sepiapterin reductase deficiency".
- Sepiapterin_reductase_deficiency wikiPageUsesTemplate Template:Orphan.
- Sepiapterin_reductase_deficiency wikiPageUsesTemplate Template:Reflist.
- Sepiapterin_reductase_deficiency subject Category:Neuroscience.
- Sepiapterin_reductase_deficiency subject Category:Neurotransmitters.
- Sepiapterin_reductase_deficiency subject Category:Pediatrics.
- Sepiapterin_reductase_deficiency hypernym Disorder.
- Sepiapterin_reductase_deficiency type Biomolecule.
- Sepiapterin_reductase_deficiency type Disease.
- Sepiapterin_reductase_deficiency type Biomolecule.
- Sepiapterin_reductase_deficiency type Pediatric.
- Sepiapterin_reductase_deficiency type Specialty.
- Sepiapterin_reductase_deficiency comment "Sepiapterin reductase deficiency is an inherited pediatric disorder characterized by movement problems, and most commonly displayed as a pattern of involuntary sustained muscle contractions known as dystonia. Symptoms are usually present within the first year of age, but diagnosis is delayed due to physicians lack of awareness and the specialized diagnostic procedures.".
- Sepiapterin_reductase_deficiency label "Sepiapterin reductase deficiency".
- Sepiapterin_reductase_deficiency sameAs Q17156923.
- Sepiapterin_reductase_deficiency sameAs m.0ndws3b.
- Sepiapterin_reductase_deficiency sameAs Q17156923.
- Sepiapterin_reductase_deficiency wasDerivedFrom Sepiapterin_reductase_deficiency?oldid=603146703.
- Sepiapterin_reductase_deficiency isPrimaryTopicOf Sepiapterin_reductase_deficiency.