Chapter 32 – Lysosomal Storage Disorders in Children

Feb 26, 2021 by in GASTROENTEROLOGY Comments Off on Chapter 32 – Lysosomal Storage Disorders in Children

Abstract Lysosomes are membrane-bound cellular organelles that contain multiple hydrolases needed for the digestion of various macromolecules including mucopolysaccharides, glycosphingolipids, cholesterol esters and oligosaccharides. Moreover, the lysosome is emerging as…

read more

Chapter 31 – Tyrosinemia in Children

Feb 26, 2021 by in GASTROENTEROLOGY Comments Off on Chapter 31 – Tyrosinemia in Children

Abstract Hepatorenal tyrosinemia1 is a severe inborn error of metabolism that can affect numerous organs, particularly the liver, kidneys, and peripheral nerves. In the first accounts of patients with features…

read more

Chapter 25 – α1-Antitrypsin Deficiency

Feb 26, 2021 by in GASTROENTEROLOGY Comments Off on Chapter 25 – α1-Antitrypsin Deficiency

Abstract Homozygous (PiZZ phenotype1) α1-antitrypsin (α1-AT) deficiency is a relatively common autosomal codominant genetic disorder, affecting 1 in 1,600–3,000 live births in most populations of Northern European ancestry [1, 2]….

read more
Premium Wordpress Themes by UFO Themes