Results 221 to 230 of about 332,672 (384)

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Creatine in women's health: bridging the gap from menstruation through pregnancy to menopause. [PDF]

open access: yesJ Int Soc Sports Nutr
Smith-Ryan AE   +5 more
europepmc   +1 more source

Dynamic electro‐clinical features in Guanidinoacetate N‐methyltransferase deficiency: A familial case series

open access: yesEpilepsia Open, EarlyView.
Abstract Guanidinoacetate N‐methyltransferase deficiency is an inborn error of creatine metabolism, responsible for the absent conversion of guanidinoacetic acid into creatine, resulting in cerebral creatine deficit. It could present a variety of symptoms such as neurodevelopmental delay, epilepsy, movement disorder (ataxia, dystonia, and chorea), and ...
Mariapaola Schifino   +5 more
wiley   +1 more source

Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis

open access: yes
ESC Heart Failure, EarlyView.
Violette Goetz   +9 more
wiley   +1 more source

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