Results 101 to 110 of about 172,120 (351)

Perinatal Gene Transfer to the Liver [PDF]

open access: yes, 2011
The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM   +6 more
core   +1 more source

Characterization of the extracellular matrix from human and dog umbilical cords

open access: yesThe Anatomical Record, EarlyView.
Abstract The extracellular matrix is important for maintaining tissue morphogenesis and homeostasis; it can also be used as a biomaterial for the production of biological scaffolds. Particularly, the umbilical cord has shown potential in the production of scaffolds for small‐diameter vessels.
Ana Carla Mendonça   +6 more
wiley   +1 more source

Overview of Encapsulated Lysine and Methionine and Their Impacts on Transition Cow Performance and Health

open access: yesAnimal Research and One Health, EarlyView.
The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem   +5 more
wiley   +1 more source

Rare case of type II glycogen storage disease [PDF]

open access: yes, 2015
The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle ...
Khabibullin, R. R.   +4 more
core   +2 more sources

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

open access: yesJournal of Inherited Metabolic Disease, 2016
Glycogen storage disease type III (GSDIII) is a rare disorder of glycogenolysis due to AGL gene mutations, causing glycogen debranching enzyme deficiency and storage of limited dextrin. Patients with GSDIIIa show involvement of liver and cardiac/skeletal
C. P. Sentner   +14 more
semanticscholar   +1 more source

Developmental Characteristics of the Embryonic Liver Tissue and Long‐Term Culture of Primary Hepatocytes in Duck

open access: yesAnimal Research and One Health, EarlyView.
Liver development was investigated at different embryonic ages (EAs). Furthermore, numerous hepatocyte media were formulated and evaluated. These results could elaborate the developmental characteristics of duck liver tissue and determine the most suitable medium for the proliferation and characteristic maintenance of hepatocytes in vitro, which would ...
Jie Wei   +7 more
wiley   +1 more source

A novel sequence of the PHKG 2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature

open access: yesJournal of Medical Case Reports
Background Glycogen storage diseases are a group of inherited metabolic disorders that affect the body’s ability to break down and/or store glycogen. Type IX glycogen storage disease is an inherited disorder caused by a deficiency of phosphorylase kinase,
Seba Harh   +3 more
doaj   +1 more source

Glycogen storage disease presenting as Cushing syndrome

open access: yesJIMD Reports, 2019
Impaired growth is common in patients with glycogen storage disease (GSD), who also may have “cherubic” facies similar to the “moon” facies of Cushing syndrome (CS). An infant presented with moon facies, growth failure, and obesity. Laboratory evaluation
Margaret A. Stefater   +3 more
doaj   +1 more source

Hepatotoxicity of Nonesterified Fatty Acids to Dairy Cows: Pathophysiological Mechanisms and Prospective Solutions

open access: yesAnimal Research and One Health, EarlyView.
Unregulated inflammation increases non‐esterified fatty acids (NEFAs), and triggers multi‐pathway hepatocyte damage including oxidative stress, mitochondrial dysfunction, and metabolic disorders in dairy cows. ABSTRACT Circulating concentrations of nonesterified fatty acids (NEFAs) are elevated due to lipid mobilization from adipose tissue in ...
Siqing Mao   +12 more
wiley   +1 more source

Glycogen storage disease type 0 due to a novel frameshift mutation in glycogen synthase 2 (GYS2) gene in a child presenting with fasting hypoglycemia and postprandial hyperglycemia

open access: yesThe Turkish Journal of Pediatrics, 2018
Glycogen storage disease type 0 (GSD0) has been considered a rare disorder, it is characterized with ketotic hypoglycemia after prolonged fasting and postprandial hyperglycemia.
Bülent Hacıhamdioğlu   +4 more
doaj   +1 more source

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