Results 51 to 60 of about 271 (90)

Disorders affecting vitamin B6 metabolism

Journal of Inherited Metabolic Disease, 2019
Vitamin B6 is present in our diet in many forms, however, only pyridoxal 5′‐phosphate (PLP) can function as a cofactor for enzymes. The intestine absorbs nonphosphorylated B6 vitamers, which are converted by specific enzymes to the active PLP form.
M. Wilson, B. Plecko, P. Mills, P. Clayton   +3 more
semanticscholar   +1 more source

B Vitamins: Small molecules, big effects

Journal of Inherited Metabolic Disease, 2019
The B vitamins comprise a group of eight water soluble vitamins (thiamine (B1), riboflavin (B2), niacin (B3), pantothenic acid (B5), pyridoxine (B6), biotin (B7), folate (B9) and cobalamin (B12)) with a myriad of cofactor roles in human metabolism. These
S. Rahman, M. Baumgartner
semanticscholar   +1 more source

Pyridoxine‐dependent epilepsy is more than just epilepsy

Developmental Medicine & Child Neurology, 2019
Pyridoxine-dependent epilepsy (PDE) is a heterogenous disorder characterized by more than epilepsy alone. Most patients have intellectual disability even when seizure control is achieved.
C. Coughlin
semanticscholar   +1 more source

Clinical and Molecular Profile of Infantile-Onset Pharmaco-Resistant Epilepsy in Iraqi Children

International Journal of Epilepsy
Background Identifying the underlying genetic etiology of epilepsy and neurodevelopmental disorders can greatly inform clinical management from diagnosis to treatment to genetic counseling about prognosis.
N. Saadi, N. Makhseed, Ali Kadhim Al-Husseinawi, Dana Marafi   +3 more
semanticscholar   +1 more source

A target prediction method to inhibit the replication process of SARS-CoV-2 via metabolic differential analysis

, 2023
Zheng H, Qi Y, Zhao Y.
europepmc   +1 more source

Precision diagnosis and treatment of vitamin metabolism-related epilepsy. [PDF]

Acta Epileptol
Gan Y, Li G, Wei Z, Feng Y, Shi Y, Deng Y.   +5 more
europepmc   +1 more source

Characteristics and Prognosis of 8p11.23-Amplified Squamous Lung Carcinomas. [PDF]

J Clin Med, 2023
Voutsadakis IA.
europepmc   +1 more source

Precision gene diagnosis and treatment of epilepsy: a new frontier in medical care. [PDF]

Acta Epileptol
Mu J, Jiang W, Tang Y, Zhou D, Liao W.
europepmc   +1 more source

Metabolic pathways and genes involved in treatable and non-treatable metabolic epilepsies. A comprehensive review and metabolic pathway analysis. [PDF]

Metab Brain Dis
Sesse A, Ladias P, Kostoulas C, Chatzistefanidis D, Georgiou I, Markoula S.   +5 more
europepmc   +1 more source

Serial proteomic analysis identifies small extracellular vesicle-MASP2 as an early biomarker of chemotherapy response in advanced pancreatic cancer. [PDF]

Transl Oncol
Dey S, Pandya D, Lo T, Narbutas R, Khandpur B, Krumholtz P, Shervinrad M, Sullivan K, August D, Evans S, Nair S, Okby N, Niland G, Frank RC.   +13 more
europepmc   +1 more source