lysosomal storage disease造句

• Another lysosomal storage disease often confused with the mucopolysaccharidoses is mucolipidosis.
• In 2011, he became a cause ambassador to promote awareness of lysosomal storage disease.
• Deficiencies in the human enzyme NEU1 leads to sialidosis, a rare lysosomal storage disease.
• Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.
• Cystinosis was the first documented genetic disease belonging to the group of Lysosomal storage disease disorders.
• Hurler syndrome is often classified as a lysosomal storage disease, and is clinically related to Hunter Syndrome.
• Ambroxol triggers the exocytosis of lysosomes via neutralization of lysosomal pH and Parkinson's or lysosomal storage disease.
• They returned a surprising determination that the defect was not the suspected occipital condylar dysplasia but a lysosomal storage disease.
• The Sanfilippo syndrome, or mucopolysaccharidosis III, is a lysosomal storage disease due to impaired degradation of heparan sulfate.
• Mutations in the glucocerebrosidase gene cause Gaucher's disease, a lysosomal storage disease characterized by an accumulation of glucocerebrosides.
• "' Cystinosis "'is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine.
• Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement.
• Defects in the gene cause lysosomal alpha-mannosidosis ( AM ), a lysosomal storage disease characterised by the accumulation of unbranched oligo-saccharide chains.
• The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disorders that result when the lysosome organelle in animal cells malfunctions.
• Hepatosplenomegaly can occur as the result of acute viral hepatitis, infectious mononucleosis, and histoplasmosis or it can be the sign of a serious and life-threatening lysosomal storage disease.
• Any one of over 50 different mutations in the gene of glucocerebrosidase have been found to affect activity of this hydrolase, producing variants of Gaucher disease, the most prevalent lysosomal storage disease.
• "' Metachromatic leukodystrophy "'( "'MLD "', also called "'Arylsulfatase A deficiency "') is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids.
• "' Farber disease "'( also known as "'Farber's lipogranulomatosis "', "'ceramidase deficiency "', " Fibrocytic dysmucopolysaccharidosis, " and " Lipogranulomatosis " ) is an extremely rare ( 80 cases reported worldwide to this day ) autosomal recessive lysosomal storage disease marked by a deficiency in the enzyme ceramidase that causes an accumulation of fatty material sphingolipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system.