نتایج جستجو برای: mucopolysaccharidosis type

تعداد نتایج: 1343233  

Journal: :Journal of inborn errors of metabolism and screening 2023

Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the deficiency or complete absence certain lysosomal enzymes responsible for breakdown mucopolysaccharides, causing an accumulation glycosaminoglycans (GAGs) throughout body. type I (MPS I), also called Hurler syndrome, autosomal recessive storage disorder resulting from enzyme α-L-iduronidase. This report aims to present c...

Journal: :The American journal of pathology 1983
M E Haskins G D Aguirre P F Jezyk R J Desnick D F Patterson

Five cats with feline alpha-L-iduronidase-deficient mucopolysaccharidosis were studied. Membrane-bound cytoplasmic inclusions were present in central nervous system neurons, hepatocytes, chondrocytes, vascular and splenic smooth muscle cells, bone marrow leukocytes, and fibroblasts of the skin, eye, and cardiac valves. The lesions in these cats closely resemble those described in human patients...

Journal: :Nauchno-prakticheskii zhurnal «Medicinskaia genetika» 2020

Journal: :Revista Médica del Hospital General de México 2017

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