Results 111 to 120 of about 556,889 (346)
Over 20-Year Follow-up of Patients with Hepatic Glycogen Storage Diseases: Single-Center Experience
Diagnostics, 2020 Background: The published data on the long-term outcomes of glycogen storage disease (GSD) patients is sparse in the literature. The aim of this study was to analyze the long-term (over 20 years) follow-up of patients with hepatic types of GSD-I, III, VI,
Edyta Szymańska +4 more
doaj +1 more source
Risk of HCC: Genetic heterogeneity and complex genetics [PDF]
, 2009 Hepatocellular carcinoma (HCC) is a common form of cancer that arises from hepatocytes and whose risk may be affected by several known environmental factors, including hepatitis viruses, alcohol, cigarette smoking, and others.
Dragani, Tommaso A.
core +1 more source
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
Molecular Genetics and Metabolism Reports, 2022 Introduction: Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the cause of
Areeg El-Gharbawy +5 more
doaj
Genome-wide Causation Studies of Complex Diseases [PDF]
arXiv, 2019 Despite significant progress in dissecting the genetic architecture of complex diseases by genome-wide association studies (GWAS), the signals identified by association analysis may not have specific pathological relevance to diseases so that a large fraction of disease causing genetic variants is still hidden. Association is used to measure dependence
arxiv
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
McArdle disease does not affect skeletal muscle fibre type profiles in humans
Biology Open, 2014 Patients suffering from glycogen storage disease V (McArdle disease) were shown to have higher surface electrical activity in their skeletal muscles when exercising at the same intensity as their healthy counterparts, indicating more muscle fibre ...
Tertius Abraham Kohn +9 more
doaj +1 more source
Predicting Disease-Gene Associations using Cross-Document Graph-based Features [PDF]
arXiv, 2017 In the context of personalized medicine, text mining methods pose an interesting option for identifying disease-gene associations, as they can be used to generate novel links between diseases and genes which may complement knowledge from structured databases.
arxiv
Exploration, EarlyView.Selenium (Se) is a crucial element in selenoproteins, key biomolecules for physiological function in vivo. Central nervous system can express all 25 kinds of selenoproteins, which protect neurons by reducing oxidative stress and inflammatory response. Neuroprotection is being investigated through the biological study of Se.
Guanning Huang +4 more
wiley +1 more source
X-linked Liver Glycogenosis in a Taiwanese Family: Transmission From Undiagnosed Males
Pediatrics and Neonatology, 2009 X-linked liver glycogenosis (XLG), also known as glycogen storage disease type-IXa, is characterized by hepatomegaly, abnormal liver functions and growth retardation. It is caused by mutations in the PHKA2 gene that encodes the α-subunit of phosphorylase
Szu-Ta Chen +6 more
doaj +1 more source