Results 121 to 130 of about 130,693 (343)
A case of glycogen storage disease Type III
, 1996 Glycogen storage diseases (GSD) are hereditary metabolic disorders leading to the storage in cells of glycogen of normal or abnormal structure.
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Ibrain, EarlyView.Neuroprotective efficacy of flavone (2‐phenyl‐4H‐chromen‐4‐one). The study aimed to explore the potential of a synthetic derivative (flavone) of a phytocompound, which is involved in neuroprotection activities. Experimental strategies included the characteristics of compound, in‐silico analysis, and in vivo assessments.
Karishma Sen +9 more
wiley +1 more source
Novel SLC37A4 Mutations in Korean Patients With Glycogen Storage Disease Ib
Annals of Laboratory Medicine, 2017 Background Molecular techniques are fundamental for establishing an accurate diagnosis and therapeutic approach of glycogen storage diseases (GSDs). We aimed to evaluate SLC37A4 mutation spectrum in Korean GSD Ib patients.
R. Choi +10 more
semanticscholar +1 more source
Relationships between glycogen storage disease and tophaceous gout
, 1967 Two patients with glucose-6-phosphatase deficiency glycogen storage disease and tophaceous gout have been studied in an effort to establish the possible relationships between the primary defect in carbohydrate metabolism and their hyperuricemia and gouty
Alepa, F.Paul +3 more
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Interdisciplinary Medicine, EarlyView.Sleep deprivation accelerates the progression of MASLD and IR by up‐regulating the expression of miR‐3572‐5p and down‐regulating the expression of miR‐183‐5p in circulating exosomes, thereby inhibiting fatty acid β‐oxidation and disrupting insulin signaling pathways. Abstract Sleep deprivation (SD) threatens human health and increases the prevalence of
Xinxin Xu +10 more
wiley +1 more source
RESULTS OF LIFE QUALITY EVALUATION IN CHILDREN WITH HEPATIC VARIANT OF GLYCOGEN DISEASE
Педиатрическая фармакология, 2013 Glycogen storage disease (glycogenosis) is a common name for a group of hereditary diseases characterized by excessive accumulation of glycogen with normal or altered structure in various organs and tissues, most often – in liver and muscles.
A. N. Surkov +5 more
doaj +1 more source
PROTEOMICS, EarlyView.ABSTRACT Despite their widespread use as a research model, a comprehensive, quantitative proteomic profile of the cultured hippocampal neurons has remained unexplored. Here, we provide the first global proteomic characterization of primary murine hippocampal neurons cultured for 14 days under near‐physiological glucose conditions (2.5 mM).
Dominika Drulis‐Fajdasz +6 more
wiley +1 more source
Iliopsoas abscess as a complication of glycogen storage disease 1b
, 2017 We present a case of iliopsoas abscess secondary to inflammatory bowel disease associated to glycogen storage disease 1b in a 12-year-old boy.
Montero-Sánchez, Margarita +11 more
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Portal Hypertension &Cirrhosis, EarlyView.ABSTRACT Accurate differentiation between benign and malignant focal liver lesions (FLLs) remains a major diagnostic challenge. Vasomics, an emerging discipline, classifies vascular phenotypes into anatomical, biomechanical, biochemical, pathophysiological, and composite categories. Sono‐Vasomics, the ultrasound‐based subset, leverages super‐resolution
Yijie Qiu +5 more
wiley +1 more source
Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis
, 2002 A case of pulmonary arterial hypertension in a patient with type-Ia glycogen-storage disease, a rare autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase is reported in this study.
O. Sitbon (6612065) +11 more
core +1 more source