Results 121 to 124 of about 426 (124)

Two Novel ALDH7A1 (Antiquitin) Splicing Mutations Associated With Pyridoxine-Dependent Seizures

Epilepsia, 2009
Giuseppe Capovilla, Pasquale Striano, Lucio Giordano   +2 more
exaly  

Mild hyperammonemia due to Antiquitin deficiency

2019
Kasapkara, Çiğdem Seher, kılıç, mustafa, EZGÜ, FATİH SÜHEYL, aksoy, ayşe, OLGAÇ, MUAZZEZ ASBURÇE BİKE   +4 more
openaire   +1 more source

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

Pyridoxine Dependent Epilepsy and Antiquitin Deficiency: Clinical and Molecular Characteristics and Recommendations for Diagnosis, Treatment and Follow-Up

Molecular Genetics and Metabolism, 2011
Peter Theodore Clayton, Saadet Mercimek-Mahmutoglu, Sidney M Gospe   +2 more
exaly