Results 41 to 50 of about 73 (50)

Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency

Neuropediatrics, 2023
Barbara Plecko, Bigna Katrin Bolsterli, Judith Kalser   +2 more
exaly  

Maintenance of cellular vitamin B6 levels and mitochondrial oxidative function depend on pyridoxal 5′-phosphate homeostasis protein

Journal of Biological Chemistry, 2023
Jolita Ciapaite, Nanda M Verhoeven-Duif, Marjolein Bosma   +2 more
exaly  

Role of the conserved pyridoxal 5ʹ-phosphate-binding protein YggS/PLPBP in vitamin B6 and amino acid homeostasis

Bioscience, Biotechnology and Biochemistry, 2022
Tomokazu Itô, Itô Tomokazu
exaly  

Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene

Metabolic Brain Disease, 2022
Deniz Kor, Rojan Ipek, Kor Deniz
exaly  

Child Neurology: Late-Onset Vitamin B 6 –Dependent Epilepsy Identified by Rapid Genome Sequencing

Neurology, 2021
Meghan Candee, Melissa Wright
exaly  

Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6–dependent Epilepsy Than Pyridoxal 5′-Phosphate

Pediatric Neurology, 2020
Yuri Dowa, Shimpei Baba, KŌSEI Hasegawa   +2 more
exaly  

Insight into vitamin B6-dependent epilepsy due toPLPBP(previouslyPROSC) missense mutations

Human Mutation, 2018
Vicente Rubio, Lorena Tremiño, Alicia Forcada-Nadal   +2 more
exaly  

Disorders of pyridoxine metabolism

2020
Pena Ia, Sidney M Gospe
exaly  

Two pyridoxal phosphate homeostasis proteins are essential for management of the coenzyme pyridoxal 5′-phosphate in Arabidopsis

Plant Cell
TERESA Fitzpatrick, Peter Farkaš, Fitzpatrick TERESA B   +2 more
exaly  

Disorders of pyridoxine metabolism

Pena Ia, Sidney M Gospe
exaly