how to cite this article: salehpour sh. diagnostic methods for gaucher disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 14-15. pls see pdf.

It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mutations at amino acids L444P, A456P, and V460V. Although glucocerebrosidase RNA...

Gaucher disease, the most prevalent lysosomal storage disease, occurs in three subtypes, all resulting from mutations in the acid beta-glucosidase gene. Molecular studies in five severely affected type 1 and two type 2 Gaucher disease patients of non-Jewish descent identified six new mutations: K74X, W179X, G195E, S271N, V352L, and a two-base deletion in exon 10 (1450del2). Two additional mutat...

Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement. We now identify a protein, glycoprotein non-metastatic B (GPNMB), that acts as an authentic marker of brain pathology in neurological forms o...

BACKGROUND The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma. METHODOLOGY We developed a sensitive and specific method enabling the simultaneous quantification of lysosphingolipids by LC-MS...

Gaucher disease type 1 (GD1), caused by mutations in the GBA1 gene, results β-glucocerebrosidase (GCase) deficiency. Gene therapy is under investigation as a potential treatment option for patients with GD1. The investigational gene FLT201 consists of an adeno-associated virus (AAVS3) encoding novel GCase variant (GCase-85). Preclinical characterization showed promising results, GCase-85 being ...

UNLABELLED Our objective was to characterize the saccadic eye movements in patients with type 3 Gaucher disease (chronic neuronopathic) in relationship to neurological and neurophysiological abnormalities. For approximately 4 years, we prospectively followed a cohort of 15 patients with Gaucher type 3, ages 8-28 years, by measuring saccadic eye movements using the scleral search coil method. We...

Gaucher disease is the most prevalent lysosomal storage disease and it results from inherited deficient glucocerebrosidase activity. The glucocerebrosidase gene from normal people was sequenced by several laboratories and it was noted that a G or A nucleotide may be present at cDNA position 1601, resulting in 495arginine or 495histidine in the glucocerebrosidase polypeptide. In order to rule ou...

Gaucher disease is a progressive lysosomal storage disorder caused by the deficiency of glucocerebrosidase, and characterized by intralysosomal storage of glucosylceramide that leads to dysfunction in multiple organ systems. Intravenous enzyme replacement with imiglucerase is the accepted standard for treatment of symptomatic patients and has been effective in reducing many of the signs and sym...