|1.||Gospe, Sidney M: 7 articles (01/2014 - 09/2005)|
|2.||Jakobs, Cornelis: 7 articles (11/2012 - 01/2007)|
|3.||Mercimek-Mahmutoglu, Saadet: 5 articles (05/2015 - 05/2009)|
|4.||Struys, Eduard: 5 articles (01/2014 - 01/2007)|
|5.||Plecko, Barbara: 4 articles (01/2014 - 01/2007)|
|6.||Jaggumantri, Sravan: 3 articles (02/2015 - 11/2012)|
|7.||van Karnebeek, Clara D M: 3 articles (02/2015 - 11/2012)|
|8.||Stockler, Sylvia: 3 articles (04/2014 - 08/2012)|
|9.||Stockler-Ipsiroglu, Sylvia: 3 articles (01/2014 - 05/2009)|
|10.||Bok, Levinus A: 3 articles (01/2014 - 12/2010)|
12/01/2015 - "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder characterized by intractable seizures in neonates and infants. "
07/01/2015 - "Pyridoxine-dependent epilepsy is a rare, autosomal recessive, treatable cause of neonatal seizures. "
01/01/2014 - "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. "
07/01/2013 - "Pyridoxine-dependent epilepsy: an often unrecognized but treatable cause of intractable seizures: case report from Korle Bu Teaching Hospital, Accra, Ghana."
05/01/2013 - "An 8-year-old Indian girl presented with severe developmental delay and seizures and was found to have pyridoxine-dependent epilepsy owing to an antiquitin mutation. "
02/01/2015 - "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered as a prototypical form of metabolic epilepsy. "
12/01/2012 - "Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy."
10/01/2002 - "Pyridoxine-dependency is a rare autosomal recessive disorder causing a severe seizure disorder of neonatal onset. "
09/01/1994 - "The results indicate that control of epilepsy might not suffice as the therapeutic aim in treating of pyridoxine dependency. "
05/01/1991 - "Pyridoxine-dependency is a rare autosomal recessive disorder causing a severe seizure disorder of prenatal or neonatal onset, psychomotor retardation and death in untreated patients. "
|3.||Status Epilepticus (Complex Partial Status Epilepticus)
|4.||Metabolic Diseases (Metabolic Disease)
11/01/2013 - "Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic disease. "
01/01/2014 - "This simple, fast, high reproducible and robust procedure facilitates a rapid diagnosis of patients with pyridoxine-dependent epilepsy and can also be used to confirm the elevated urinary alpha-aminoadipic semialdehyde excretion in patients with other metabolic diseases as molybdenum cofactor and isolated sulphite oxidase deficiencies. "
03/01/2002 - "Pyridoxine dependency and congenital hypophosphatasia are unusual metabolic disorders. "
08/01/2009 - "Two are caused by reduced synthesis/availability of PLP (Pyridox(am)in-phosphate oxidase (PNPO) deficiency and infantile hypophosphatasia) and two by increased utilization/inactivation (pyridoxine-dependent epilepsy and hyperprolinemia type II). "
|3.||Anticonvulsants (Antiepileptic Drugs)
|4.||Leucovorin (Folinic Acid)
|5.||Biological Markers (Surrogate Marker)
|8.||Glucose Transporter Type 1
|9.||Facilitative Glucose Transport Proteins (Glucose Transporter)