Results 81 to 90 of about 556,889 (346)
Improvement of the nutritional management of glycogen storage disease type I [PDF]
, 2010 The nutritional management of glycogen storage disease has often been called “the intensive regimen”. The intensive regimen may not be without consequence. This thesis aims to characterise the intensive regimen and implement changes. Chapter 1 discusses
Bhattacharya, K.
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Lafora disease offers a unique window into neuronal glycogen metabolism [PDF]
, 2018 Lafora disease (LD) is a fatal, autosomal recessive, glycogen-storage disorder that manifests as severe epilepsy. LD results from mutations in the gene encoding either the glycogen phosphatase laforin or the E3 ubiquitin ligase malin. Individuals with LD
Gentry, Matthew S. +4 more
core +2 more sources
BioEssays, EarlyView.Recent findings indicate that mitochondria‐associated membranes (MAMs), where the endoplasmic reticulum directly contacts the mitochondria, are a novel microdomain essential for cellular homeostasis, including proteostasis. We summarize the disruption of protein homeostasis and MAM alteration in neurodegenerative diseases, then discuss challenges and ...
Seiji Watanabe, Koji Yamanaka
wiley +1 more source
Annals of Hepatology, 2018 Glycogen storage disease type I and glycogenic hepatopathy are the most common type of primary and secondary hepatic glycogenosis, with presenting common radiological features of hepatomegaly, hepatic signal, or density change.
Zhi-yuan Chen +2 more
doaj
TSDF: A simple yet comprehensive, unified data storage and exchange format standard for digital biosensor data in health applications [PDF]
arXiv, 2022 Digital sensors are increasingly being used to monitor the change over time of physiological processes in biological health and disease, often using wearable devices. This generates very large amounts of digital sensor data, for which, a consensus on a common storage, exchange and archival data format standard, has yet to be reached.
arxiv
Liver organoids: From 3D printing to biomedical applications
BMEMat, EarlyView.A comprehensive review on liver organoids culture techniques from 3D printing to organ‐on‐chip, as well as focusing on challenges and perspectives for advancement liver organoids in various future applications. Abstract The liver is an immune organ, especially an immune tolerance organ.
Ying Shi +4 more
wiley +1 more source
Metabolic Control, Quality of Life, and Body Image in Patients with Glycogen Storage Disease Type Ia [PDF]
, 2019 Glycogen storage disease is a group of inborn errors of metabolism, with type Ia being the most common form of the disorder. Glycogen storage disease type Ia (GSDIa) is a multisystemic condition in which individuals have various complications secondary ...
Bream, Alexa
core +1 more source
From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle disease [PDF]
, 2014 McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity.
Andrea Beggs +23 more
core +3 more sources
Brain Pathology, Volume 33, Issue 1, January 2023., 2023 In this study Cooper‐Knock et al identified an autosomal dominant ALS pedigree associated with p.Y374X‐TARDBP. In patient tissue the authors confirmed reduced TDP‐43 protein expression, abnormal TDP‐43 fragmentation and deficient TDP‐43‐mediated splicing. This work extends the phenotypes associated with TDP‐43 mutations.
Johnathan Cooper‐Knock +17 more
wiley +1 more source
Portacaval shunt for glycogen storage disease and hyperlipidaemia. [PDF]
, 1977 Complete portacaval shunt was used to treat 10 patients with glycogen storage disease. A favourable effect was noted on body growth and a number of metabolic abnormalities.
Benichou, J +3 more
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