Sepiapterin reductase deficiency
http://dbpedia.org/resource/Sepiapterin_reductase_deficiency an entity of type: Thing
Недостаточность сепиаптеринредуктазы — заболевание, вызываемое нарушением работы фермента , участвующего в цепочке синтеза тетрагидробиоптерина. Развивающаяся при этом заболевании недостаточность тетрагидробиоптерина вызывает снижение уровней нейромедиатора дофамина, вследствие чего у пациентов отмечаются двигательные нарушения, такие как дистония и окулогирные кризы.
rdf:langString
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 tim
rdf:langString
rdf:langString
Sepiapterin reductase deficiency
rdf:langString
Недостаточность сепиаптеринредуктазы
xsd:integer
37691693
xsd:integer
1093063140
rdf:langString
SPR deficiency
rdf:langString
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 the lack of overall awareness and the need for a series of atypical procedures used to diagnose this condition pose a dilemma.
rdf:langString
Недостаточность сепиаптеринредуктазы — заболевание, вызываемое нарушением работы фермента , участвующего в цепочке синтеза тетрагидробиоптерина. Развивающаяся при этом заболевании недостаточность тетрагидробиоптерина вызывает снижение уровней нейромедиатора дофамина, вследствие чего у пациентов отмечаются двигательные нарушения, такие как дистония и окулогирные кризы.
xsd:nonNegativeInteger
13646
