Add to ORKGSialidosis is an autosomal recessive lysosomal storage disease caused by mutations in the neuraminidase 1 (NEU1) gene located on 6p21.33 chromosome leading to low levels of alpha-N-acetylneuraminidase (sialidase) and accumulation of sialyloligosaccharides
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
Abstract Sialidosis is a rare lysosomal storage disease. The 2 forms described are as follows: the e...
Sialidosis is a rare lysosomal storage disease. The 2 forms described are as follows: the early-onse...
Lysosomal sialidase (EC 3.2.1.18) has a dual physiological function; it participates in intralysosom...
Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1...
Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acety...
Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acety...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
<div><p>The <i>NEU1</i> gene is the first identified member of the human sialidases, glycohydrolitic...
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
AbstractThe lysosomal storage disease sialidosis is caused by a primary deficiency of the sialidase ...
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
Abstract Sialidosis is a rare lysosomal storage disease. The 2 forms described are as follows: the e...
Sialidosis is a rare lysosomal storage disease. The 2 forms described are as follows: the early-onse...
Lysosomal sialidase (EC 3.2.1.18) has a dual physiological function; it participates in intralysosom...
Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1...
Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acety...
Sialidosis (MIM 256550) is a rare, autosomal recessive inherited disorder, caused by α-N-acety...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
Sialidosis is an autosomal recessive disease caused by the genetic deficiency of lysosomal sialidase...
<div><p>The <i>NEU1</i> gene is the first identified member of the human sialidases, glycohydrolitic...
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
AbstractThe lysosomal storage disease sialidosis is caused by a primary deficiency of the sialidase ...
The NEU1 gene is the first identified member of the human sialidases, glycohydrolitic enzymes that r...
Abstract Sialidosis is a rare lysosomal storage disease. The 2 forms described are as follows: the e...
Sialidosis is a rare lysosomal storage disease. The 2 forms described are as follows: the early-onse...