Results 61 to 70 of about 161,890 (272)
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]
, 2019 BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina +8 more
core
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia 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
Diagnostics, 2020 The effectiveness of hematopoietic stem cell transplantation (HSCT) for mucopolysaccharidosis type II (MPS II, Hunter disease) remains controversial although recent studies have shown HSCT provides more clinical impact.
Yasuyuki Suzuki +5 more
doaj +1 more source
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]
, 2008 We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu +4 more
core +1 more source
Epileptic drop attacks: More than just atonic seizures
Epilepsia Open, EarlyView.Abstract “Drop attacks” are not officially defined by the International League Against Epilepsy. Seizures are characterized by a sudden loss of control over the trunk and posture, leading to falls and injuries, and resolving within a few seconds. Accurately diagnosing the type of seizure is usually difficult due to limitations in clinical documentation
Tomonori Ono +3 more
wiley +1 more source
Epilepsia Open, EarlyView.The impact of prompt diagnosis and treatment, and early predictors of outcome severity in this cohort. Abstract Objective To determine whether prompt genetic diagnosis in children with KCNQ2 neonatal epilepsy enabling targeted therapy is associated with improved outcomes, and identify early predictors of developmental outcomes.
Trupti Jadhav +17 more
wiley +1 more source
OBSTRUCTIVE SLEEP APNEA SYNDROME IN CHILDREN WITH TYPE II MUCOPOLYSACCHARIDOSIS (HUNTER SYNDROME)
Педиатрическая фармакология, 2013 17 children received cardiorespiratory monitoring in order to evaluate spread and dynamics of changes in the primary obstructive sleep apnea syndrome (OSAS) parameters at type II mucopolysaccharidosis.
N. D. Vashakmadze +8 more
doaj +1 more source
Anatomical Variation of Absent Facial Vein: Implications for Facial Reanimation Surgery
Head &Neck, EarlyView.ABSTRACT Background The facial vein is the standard recipient vessel in facial reanimation surgery. Its complete absence is rarely described but may cause major challenges during free functional muscle transfer (FFMT). This study aimed to determine the prevalence and predictors of facial vein absence and assess its surgical relevance in facial ...
Cam T. Nguyen +4 more
wiley +1 more source
International Journal of Cancer, EarlyView.Early detection of colorectal cancer via population‐based screening programs can reduce incidence and mortality, but current screening approaches are limited. This systematic review evaluated the screening potential of blood‐based circulating tumor DNA assays in asymptomatic screening populations.
Caroline Ledertoug Kahn +4 more
wiley +1 more source
Localization of adaptive variants in human genomes using averaged one-dependence estimation. [PDF]
, 2018 Statistical methods for identifying adaptive mutations from population genetic data face several obstacles: assessing the significance of genomic outliers, integrating correlated measures of selection into one analytic framework, and distinguishing ...
Atkinson, Elizabeth G +5 more
core +3 more sources