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…

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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…

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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]….

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