Abstract Objective Gaucher disease (GD) is the most common autosomal recessive disorder of glycolipid storage. It results from mutations in the glucocerebrosidase (GBA) gene and leads to GBA deficiency. Different mutations are associated with different phenotypes in the three major types of GD. Materials & Methods The spectrum of mutations in GBA gene in 26 unrelated patients with GD from different Iranian populations was determined by DNA sequencing, polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP), and amplification-refractory mutation system (ARMS) methods. An in silico analysis was also performedfor novel mutations Results Six new mutations were identified in this study. The newly detected mutations th...
[[abstract]]Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarka...
Gaucher disease, the most prevalent lysosomal storage disease, results from an inherited deficiency ...
Gaucher disease (GD) is a lysosomal storage disorder caused by the deficiency of the β-glucocerebros...
PubMed ID: 23426826Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipi...
WOS: 000309757300022PubMed ID: 23426826Gaucher disease (GD) is the most frequent autosomal recessive...
[Objectives]: Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by...
Gaucher disease results from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45)...
Abstract Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due t...
Gaucher disease (GD), the most prevalent lysosomal storage disease characterized by a remarkable deg...
Gaucher disease is the autosomally recessively inherited deficiency of the lysosomal enzyme glucocer...
SummaryGaucher disease (GD) is one of the most prevalent lysosomal storage disorders and one of the ...
Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficien...
Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree o...
Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency o...
Abstract Background Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased a...
[[abstract]]Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarka...
Gaucher disease, the most prevalent lysosomal storage disease, results from an inherited deficiency ...
Gaucher disease (GD) is a lysosomal storage disorder caused by the deficiency of the β-glucocerebros...
PubMed ID: 23426826Gaucher disease (GD) is the most frequent autosomal recessive lysosomal glycolipi...
WOS: 000309757300022PubMed ID: 23426826Gaucher disease (GD) is the most frequent autosomal recessive...
[Objectives]: Gaucher disease (GD) is the most common inherited lysosomal storage disease, caused by...
Gaucher disease results from the inherited deficiency of the enzyme glucocerebrosidase (EC 3.2.1.45)...
Abstract Background Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due t...
Gaucher disease (GD), the most prevalent lysosomal storage disease characterized by a remarkable deg...
Gaucher disease is the autosomally recessively inherited deficiency of the lysosomal enzyme glucocer...
SummaryGaucher disease (GD) is one of the most prevalent lysosomal storage disorders and one of the ...
Type 1 Gaucher disease (GD), the most prevalent lysosomal storage disease, results from the deficien...
Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarkable degree o...
Gaucher disease, the most common lysosomal storage disorder, results from the inherited deficiency o...
Abstract Background Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased a...
[[abstract]]Gaucher disease, the most prevalent lysosomal storage disease characterized by a remarka...
Gaucher disease, the most prevalent lysosomal storage disease, results from an inherited deficiency ...
Gaucher disease (GD) is a lysosomal storage disorder caused by the deficiency of the β-glucocerebros...