Results 111 to 120 of about 423 (120)

Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism, 2012
Pyridoxine dependent epilepsy is an autosomal recessive disorder characterized by early onset seizures responsive to pyridoxine and caused by a defect in the α-aminoadipic semialdehyde dehydrogenase (antiquitin) gene (ALDH7A1). In order to characterize the effects of a series of twelve disease-associated ALDH7A1 missense mutations on antiquitin ...
Coulter-Mackie, M.B., Li, A., Lian, Q., Struijs, E.A., Stockler, S., Waters, P.J.   +5 more
openaire   +3 more sources

Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity?

Developmental Medicine & Child Neurology, 2011
Pyridoxine-dependent epilepsy (PDE) is a treatable inborn error of metabolism with autosomal recessive inheritance. Antenatal and postnatal prophylactic administration of pyridoxine has been recommended to improve the developmental outcome in possible future pregnancies. We report on a male offspring of a second pregnancy at risk for PDE.
Hartmann, H., Fingerhut, M., Jakobs, C.A.J.M., Plecko, B.   +3 more
openaire   +3 more sources

Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma: Relevance to pyridoxine‐dependent epilepsy

Journal of Inherited Metabolic Disease, 2023
Deborah Mathis, Barbara Plecko, Martin Poms   +2 more
exaly  

The measurement of urinary Delta(1)-piperideine-6-carboxylate, the alter ego of alpha-aminoadipic semialdehyde, in Antiquitin deficiency.

2012
The assessment of urinary alpha-aminoadipic semialdehyde (alpha-AASA) has become the diagnostic laboratory test for pyridoxine dependent seizures (PDS). alpha-AASA is in spontaneous equilibrium with its cyclic form Delta(1)-piperideine-6-carboxylate (P6C); a molecule with a heterocyclic ring structure.
Struys, E.A., Bok, L.A., Emal, D., Houterman, S., Willemsen, M.A.A.P., Willemsen, M.A.A.P., Jakobs, C.   +6 more
openaire   +1 more source

MLO02 Dysmorphology in patients with pyridoxine-dependent seizures and mutations of the antiquitin (Aldh7a1) gene

European Journal of Paediatric Neurology, 2007
M. Topcu, G. Haliloglu, K. Karli Oguz, E. Struys, G. Salomons, C. Jakobs, T. Coskun   +6 more
openaire   +1 more source

Is antiquitin a mitochondrial Enzyme?

Journal of Cellular Biochemistry, 2010
Wing-Ping Fong
exaly  

Pyridoxine-dependent epilepsy owing to antiquitin deficiency — mutation in theALDH7A1gene

Paediatrics and International Child Health, 2013
Beena Suresh, E A Struys, Sujatha Jagadeesh   +2 more
exaly  

Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine‐dependent seizures

Epilepsia, 2009
Pasquale Striano
exaly  

Status epilepticus nach Asphyxie als diagnostische Herausforderung: Antiquitin-Mangel als seltene Differentialdiagnose

Zeitschrift für Geburtshilfe und Neonatologie
T Graus, J C Stoffels, TM K Völkl, A Praus   +3 more
openaire   +1 more source

Structural and mutational analysis of antiquitin as a candidate gene for Menière disease

American Journal of Medical Genetics Part A, 2002
exaly