Results 121 to 130 of about 1,906 (168)

Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials

, 2012
Clara van Karnebeek, Hans Hartmann, Sravan Jaggumantri, Levinus A. Bok, Barb Cheng, Mary Connolly, Curtis R. Coughlin, Anibh M. Das, Sídney M. Gospe, Cornelis Jakobs, Johanna H. van der Lee, Saadet Mercimek‐Mahmutoglu, Uta Meyer, Eduard A. Struys, Graham Sinclair, Johan Van Hove, Jean-Paul Collet, Barbara Plecko, Sylvia Stöckler   +18 more
openalex   +1 more source

Pyridoxine-Dependent Epilepsy

, 2019
openaire   +2 more sources

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. [PDF]

J Inherit Metab Dis, 2019
Coughlin CR, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK.   +16 more
europepmc   +1 more source

Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology. [PDF]

PLoS One, 2017
Zabinyakov N, Bullivant G, Cao F, Fernandez Ojeda M, Jia ZP, Wen XY, Dowling JJ, Salomons GS, Mercimek-Andrews S.   +8 more
europepmc   +1 more source

Hepatocellular Carcinoma: A Critical Complication in Patients Treated with Pyridoxal Phosphate. [PDF]

Neuropediatrics
Brands MM, de Puyraimond C, Gospe SM, Schiff MM, Jaeger B, Koot BG, Raphael MF, Lubout CM, Soto B, Delanne J, Imbard A, Zempel J, Kraal KC, Scheenstra R, Clayton PT.   +14 more
europepmc   +1 more source

Shared Disease Mechanisms in Neurodevelopmental Disorders: A Cellular and Molecular Biology Perspective. [PDF]

Brain Sci
Pattie EA, Iffland PH.
europepmc   +1 more source

Presentation 1_Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.pptx

Xixi Yu (9911322), Xin Zhang (35492), Shiyan Qiu (22179229), Li Yang (6520), Xin Li (51274), Dongyu Shi (22179232)   +5 more
openalex   +1 more source

Current neonatal seizure classification and approach to the newborn with seizure. [PDF]

Proc (Bayl Univ Med Cent)
Alan S, Tandircioglu UA.
europepmc   +1 more source

Pyridoxine dependent epilepsy. Diagnostics and outcome of the Dutch patients

, 2013
Levinus A. Bok
openalex   +1 more source