Results 211 to 220 of about 908,246 (301)

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy. [PDF]

Genes (Basel)
Falsaperla R, Salvo E, Sapuppo A, Barberi C, Sortino V, Fusto G, Rizzo R, Pappalardo XG, Corsello G, Ruggieri M, Romano C, Saccuzzo L, Fichera M, Bonaglia MC.   +13 more
europepmc   +1 more source

Safety and Effectiveness of Long-Term Isoniazid Treatment for the Prevention of Tuberculosis in High-Risk Dialysis Patients. [PDF]

Kidney Int Rep
Freercks R, Manning K, Ensor J, Walton N, Ndamase S, Muller E, Nagiah S, Redd AD, van der Merwe E.   +8 more
europepmc   +1 more source

Dual-omics analysis reveals B vitamin regulation and metabolism in Areca Catechu inflorescence. [PDF]

BMC Genomics
Jiang W, Liu X, Li W, Yang J, Li P, Xie M, Zhou G.   +6 more
europepmc   +1 more source

Lysine <i>α</i>-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases. [PDF]

Front Mol Neurosci
Valderrama GV, Moreira GA, Arruda P.
europepmc   +1 more source

Emerging Therapeutic Approaches for Tic Alleviation in Tourette Syndrome: The Role of Micronutrients. [PDF]

Neurol Int
Madireddy S, Madireddy S.
europepmc   +1 more source

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria. [PDF]

Mol Genet Metab Rep
Sultan R, Urlacher J, Athey T, Kannu P, Seres P, Mercimek-Andrews S.   +5 more
europepmc   +1 more source

Targeting Lysine α-Ketoglutarate Reductase to Treat Pyridoxine-Dependent Epilepsy. [PDF]

J Neurosci
Liang Z, Wu J, Liu Q, Qin D, Wang M, Zhong X, Guo W.   +6 more
europepmc   +1 more source