Results 51 to 60 of about 98 (63)

Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews

Freeman K, Dinnes J, Shinkins B, Clark C, Kander I, Scandrett K, Chockalingam S, Osman A, Dracup N, Court R, Butt F, Visintin C, Bonham JR, Elliman D, Shortland G, Mackie A, Miedzybrodzka Z, Morgan S, Boardman F, Takwoingi Y, Taylor-Phillips S.   +20 more
europepmc   +1 more source

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

Neuropediatrics, 2022
AbstractTo describe a new phenotype and the diagnostic workup of a vitamin-B6-dependent epilepsy due to pyridoxal 5′-phosphate-binding protein (PLPBP) deficiency in an infant with early-onset epilepsy at the age of 5 years 6 months. Following immediate and impressive clinical response to treatment with pyridoxine, metabolic screening for vitamin-B6 ...
Kalser, Judith, Giuliano, Fabienne, Peralta, Maria, Plecko, Barbara, Bölsterli, Bigna Katrin   +4 more
openaire   +4 more sources

Maintenance of Cellular Vitamin B6 Levels and Mitochondrial Oxidative Function Depend on Pyridoxal 5′-Phosphate Homeostasis Protein [PDF]

Journal of Biological Chemistry, 2023
Recently, biallelic variants in PLPBP coding for pyridoxal 5'-phosphate homeostasis protein (PLPHP) were identified as a novel cause of early-onset vitamin B 6-dependent epilepsy. The molecular function and precise role of PLPHP in vitamin B 6 metabolism
Jolita Ciapaite, Nanda M Verhoeven-Duif, Lodewijk Ijlst   +2 more
exaly   +1 more source

Insight Into Vitamin B6-Dependent Epilepsy Due to PLPBP (Previously PROSC) Missense Mutations

Human Mutation, 2018
12 páginas, 3 figuras, 2 tablas. "This is the pre-peer reviewed version of the following article: Hum Mutat. 2018 Jul;39(7):1002-1013, which has been published in final form at http://dx.doi.org/10.1002/humu.23540.
Vicente Rubio, Lorena Tremiño, Alicia Forcada-Nadal   +2 more
exaly   +2 more sources

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Infantile Spasms Without Hypsarrhythmia and Paroxysmal Eye–Head Movements in an Infant With a Pyridoxine-Dependent Epilepsy Due to PLPBP/PLPHP Deficiency

Neuropediatrics, 2023
Fabienne GIULIANO, Barbara Plecko, Bigna K Bölsterli   +2 more
exaly  

Pyridoxine-Dependent Epilepsy Caused by a Novel Homozygous Mutation in PLPBP Gene

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

Child Neurology: Late-Onset Vitamin B6–Dependent Epilepsy Identified by Rapid Genome Sequencing

Neurology, 2021
Meghan S Candee, Melissa A Wright, Gary R Nelson   +2 more
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, Naoko Ishihara
exaly