Results 21 to 30 of about 19,913 (244)

Variable treatment response in a patient with pyridoxal N phosphate oxidase (PNPO) deficiency- understanding the paradox

Epilepsy & Behavior Reports, 2020
A 6-year-old girl presented with history of infantile onset epileptic encephalopathy and developmental delay. She had polymorphic seizures that were refractory to regular anti-seizure medication.
Smilu Mohanlal, Parayil Sankaran Bindu, Sachin Sureshbabu, Suresh Kumar   +3 more
doaj   +1 more source

Protective role of vitamin B6 (PLP) against DNA damage in Drosophila models of type 2 diabetes [PDF]

, 2018
Growing evidence shows that improper intake of vitamin B6 increases cancer risk and several studies indicate that diabetic patients have a higher risk of developing tumors.
MF Fenech, M Fenech, F Mitelman, A Aguilera, SF Bunting, SJ Duthie, MJ Shrubsole, YI Kim, JB Mason, CD Cantarella, R Percudani, R Percudani, ML Salvo di, H Hellmann, AA Booth, P Bilski, SA Denslow, BN Ames, L Galluzzi, S Mocellin, L Galluzzi, B Gylling, A Marzio, P Kanellis, SC Lee, M Brownlee, D Bonnefont-Rousselot, Y Hinokio, MT Goodarzi, E Tatsch, P Graham, RS Garofalo, RW Alfa, LP Musselman, SN Thompson, R Ugrankar, R Bohni, M Tatar, JM Murillo-Maldonado, M Lorenzi, A Rezabakhsh, SE Polo, JP Madigan, PA Jeggo, C Merigliano, H Vlassara, H Stopper, N Schupp, S Golbidi, EA Muellenbach, J Colombani, AT Haselton, SK Kim, G Lee, EJ Rulifson, SJ Broughton, T Ikeya, M Fraser, S Nakamura, M Pischetsrieder, S Nakamura, J Blasiak, PT Clayton, M Okada, JE Leklem, HJ Ahn, WA Nix, M Gatti, S Bonaccorsi, FJ Diaz-Benjumea   +69 more
core   +2 more sources

Pyridoxine Deficiency in Hyperthyroidism.

Experimental Biology and Medicine, 1960
SummaryThe occurrence of pyridoxine deficiency was determined in 14 patients with hyperthyroidism and 14 control euthyroid patients by the tryptophan load test. Urinary xanthurenic acid excretion following the tryptophan load test was significantly greater in hyperthyroid patients than in controls.
M G, WOHL, H A, LEVY, A, SZUTKA, G, MALDIA   +3 more
openaire   +2 more sources

Acquired Sideroblastic Anemia: An exploratory Comparative Statistical Analysis Between Clonal and Non-clonal cases

Mediterranean Journal of Hematology and Infectious Diseases, 2022
Sideroblastic anemia (SA) is a rare heterogenous group of inherited and acquired bone marrow disorders. We retrospectively studied the clinicopathologic characteristics, cytogenetic findings, and disease outcome of patients with acquired sideroblastic ...
Dina Sameh Soliman, Samah Kohla, Shehab Fareed, Susanna Akiki , Aliaa Amer, Ibrahim Ganwo, Prem Chandra, Halima El-Omri, Feryal Ibrahim   +8 more
doaj   +1 more source

Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases

Frontiers in Neurology, 2022
PLPHP (pyridoxal-phosphate homeostasis protein) deficiency is caused by biallelic pathogenic variants in PLPBP and is a rare cause of pyridoxine-responsive disorders. We describe three French-Canadian individuals with PLPHP deficiency, including one with
Sarah Alsubhi, Bradley Osterman, Nicolas Chrestian, François Dubeau, Daniela Buhas, Daniela Buhas, Myriam Srour, Myriam Srour, Myriam Srour   +8 more
doaj   +1 more source

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin B6-Dependent Epilepsy [PDF]

, 2016
Pyridoxal 5'-phosphate (PLP), the active form of vitamin B6, functions as a cofactor in humans for more than 140 enzymes, many of which are involved in neurotransmitter synthesis and degradation.
Champion, Mike, Chong, W.K., Clayton, Peter T., Darin, Niklas, de Crécy-Lagard, Valérie, El Yacoubi, Basma, Footitt, Emma, Heales, Simon, Husain, Ralf A., Lascelles, Karine, Mills, Philippa B, Pope, Simon, Prunetti, Laurence, Prunty, Helen, Reid, Emma, Samuelsson, Lena, Veggiotti, Pierangelo, Wassmer, Evangeline, Wilson, Louise C., Wilson, Matthew   +19 more
core   +1 more source

First patient in Serbia with biochemically and genetically diagnosed pyridoxine-dependent epilepsy [PDF]

Vojnosanitetski Pregled, 2017
Introduction. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive inborn error of metabolism present with early-onset seizures resistant to common anticonvulsants.
Ješić Miloš M., Ješić Maja D., Buljugić Svetlana, Živanović Aleksandra   +3 more
doaj   +1 more source

West Syndrome Is an Exceptional Presentation of Pyridoxine- and Pyridoxal Phosphate-Dependent Epilepsy: Data From a French Cohort and Review of the Literature

Frontiers in Pediatrics, 2021
Objective: To characterize the electro-clinical presentation of patients with pyridoxine-dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to determine whether some of them could be diagnosed as de novo West syndrome, i ...
Marc Gibaud, Magalie Barth, Jérémie Lefranc, Karine Mention, Nathalie Villeneuve, Manuel Schiff, Hélène Maurey, Marie-Anne Barthez, Isabelle Caubel, Mondher Chouchane, Diane Doummar, Manoëlle Kossorotoff, Marie-Dominique Lamblin, Agathe Roubertie, Rima Nabbout, Patrick Van Bogaert, Patrick Van Bogaert   +16 more
doaj   +1 more source

Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature

Children, 2023
Cysthiatonine beta-synthase (CBS) deficiency (CBSD) is an autosomal recessive rare disorder caused by variations on CBS that leads to impaired conversion of homocysteine (Hcy) to cystathionine.
Egidio Candela, Michele Zagariello, Valeria Di Natale, Rita Ortolano, Francesca Righetti, Valentina Assirelli, Giacomo Biasucci, Alessandra Cassio, Andrea Pession, Federico Baronio   +9 more
doaj   +1 more source

A Trial of the Effect of Micronutrient Supplementation on Treatment Outcome, T Cell Counts, Morbidity, and Mortality in Adults with Pulmonary Tuberculosis. [PDF]

, 2008
Tuberculosis (TB) often coincides with nutritional deficiencies. The effects of micronutrient supplementation on TB treatment outcomes, clinical complications, and mortality are uncertain. We conducted a randomized, double-blind, placebo-controlled trial
Bosch, Ronald J, Fawzi, Wafaie W, Matsumoto, Kenji, Meydani, Simin N, Mugusi, Ferdinand, Saathoff, Elmar, Urassa, Willy, Villamor, Eduardo   +7 more
core   +2 more sources