Matches in DBpedia 2014 for { <http://dbpedia.org/resource/Pyridoxine-dependent_epilepsy> ?p ?o. }
Showing items 1 to 40 of
40
with 100 items per page.
- Pyridoxine-dependent_epilepsy abstract "Pyridoxine-dependent epilepsy (PDE, EPD) or pyridoxine-dependent seizure (PDS) is an extremely rare disorder characterised by intractable seizures in newborn children that require lifelong B6 supplementation to treat. The disorder was first recognized in the 1950s, with the first description provided by Hunt et al. in 1954. The most likely cause is an autosomal recessive mutation in ALDH7A1 (antiquitin) gene. It is believed to affect around 1 in 400,000 to 700,000 births.".
- Pyridoxine-dependent_epilepsy emedicineSubject "article".
- Pyridoxine-dependent_epilepsy emedicineTopic "985667".
- Pyridoxine-dependent_epilepsy omim "266100".
- Pyridoxine-dependent_epilepsy thumbnail Pyridoxine_structure_ver2.svg?width=300.
- Pyridoxine-dependent_epilepsy wikiPageExternalLink pyridoxine-dependent-epilepsy.
- Pyridoxine-dependent_epilepsy wikiPageExternalLink br.fcgi?book=gene&part=pds.
- Pyridoxine-dependent_epilepsy wikiPageID "24011178".
- Pyridoxine-dependent_epilepsy wikiPageRevisionID "600843693".
- Pyridoxine-dependent_epilepsy caption Pyridoxine.
- Pyridoxine-dependent_epilepsy emedicinesubj "article".
- Pyridoxine-dependent_epilepsy emedicinetopic "985667".
- Pyridoxine-dependent_epilepsy hasPhotoCollection Pyridoxine-dependent_epilepsy.
- Pyridoxine-dependent_epilepsy name "Pyridoxine-dependent epilepsy".
- Pyridoxine-dependent_epilepsy omim "266100".
- Pyridoxine-dependent_epilepsy subject Category:Epilepsy_types.
- Pyridoxine-dependent_epilepsy type Abstraction100002137.
- Pyridoxine-dependent_epilepsy type Attribute100024264.
- Pyridoxine-dependent_epilepsy type Condition113920835.
- Pyridoxine-dependent_epilepsy type Disease114070360.
- Pyridoxine-dependent_epilepsy type IllHealth114052046.
- Pyridoxine-dependent_epilepsy type Illness114061805.
- Pyridoxine-dependent_epilepsy type PathologicalState114051917.
- Pyridoxine-dependent_epilepsy type PhysicalCondition114034177.
- Pyridoxine-dependent_epilepsy type State100024720.
- Pyridoxine-dependent_epilepsy type Disease.
- Pyridoxine-dependent_epilepsy type AilmentCondition.
- Pyridoxine-dependent_epilepsy type Situation.
- Pyridoxine-dependent_epilepsy comment "Pyridoxine-dependent epilepsy (PDE, EPD) or pyridoxine-dependent seizure (PDS) is an extremely rare disorder characterised by intractable seizures in newborn children that require lifelong B6 supplementation to treat. The disorder was first recognized in the 1950s, with the first description provided by Hunt et al. in 1954. The most likely cause is an autosomal recessive mutation in ALDH7A1 (antiquitin) gene. It is believed to affect around 1 in 400,000 to 700,000 births.".
- Pyridoxine-dependent_epilepsy label "Pyridoxinabhängige Epilepsie".
- Pyridoxine-dependent_epilepsy label "Pyridoxine-dependent epilepsy".
- Pyridoxine-dependent_epilepsy sameAs Pyridoxinabhängige_Epilepsie.
- Pyridoxine-dependent_epilepsy sameAs m.07kftfc.
- Pyridoxine-dependent_epilepsy sameAs Q7263591.
- Pyridoxine-dependent_epilepsy sameAs Q7263591.
- Pyridoxine-dependent_epilepsy sameAs Pyridoxine-dependent_epilepsy.
- Pyridoxine-dependent_epilepsy wasDerivedFrom Pyridoxine-dependent_epilepsy?oldid=600843693.
- Pyridoxine-dependent_epilepsy depiction Pyridoxine_structure_ver2.svg.
- Pyridoxine-dependent_epilepsy isPrimaryTopicOf Pyridoxine-dependent_epilepsy.
- Pyridoxine-dependent_epilepsy name "Pyridoxine-dependent epilepsy".