how to cite this article: taghdiri mm. type 2 gaucher disease (acute infantile gaucher disease or neuropathic type). iran j child neurol autumn 2012; 6:4 (suppl. 1):12.   pls see pdf.

Diploid human infant skin fibroblasts cultured from normal infants and Gaucher disease infants, with genetically defective lysosomal glucosylceramide:beta-glucohydrolase activity, had a full range of homologous glycosphingolipids from the simplest (glucosylceramide) to higher neutral derivatives (lactosyl-, trihexosyl- and tetrahexosylceramide) and anionic sialo derivatives (gangliosides) (sial...

GAUCHER'S DISEASE is a familial disorder characterized by accumulation in reticuloendothelial cells of glucocerebrosides, compounds containing sphingosine, fatty acid, and glucose in equimolar amounts. The storage cells, called Gaucher cells, have a characteristic appearance, and their increasing numbers in the liver, spleen, lymph nodes, and bone marrow are responsible for most of the clinical...

Fibroblasts from normal subjects and patients with the three types of Gaucher disease were labeled with [3H]leucine. Glucocerebrosidase antigen was immunoprecipitated using affinity-purified Sepharose-bound antibody. Normal cells initially formed a 60-kDa polypeptide antigen that was gradually replaced by a broad band of antigen averaging 63 kDa. This position corresponds with that of mature fi...

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.

Gaucher disease is caused by a deficiency of glucocerebrosidase. Patients with Gaucher disease are divided into three major phenotypes: chronic nonneuronopathic, acute neuronopathic, and chronic neuronopathic, based on symptoms of the nervous system, the severity of symptoms, and the age of disease onset. The characteristics of patients with acute neuronopathic- and chronic neuronopathic-type G...

The non-neuropathic form of Gaucher's disease was diagnosed in 11 children of non-Jewish ancestry in South Africa; all were under the age of 4. None had any neurological involvement and, apart from the precocious presentation and rapid course, the features in each resembled those of the classical 'adult' or chronic non-neuropathic form of Gaucher disease. By contrast, the condition presented af...

Gaucher disease is an inherited disorder caused by a deficiency in the lysosomal hydrolase glucocerebrosidase. There is a wide spectrum of clinical presentations, with the most common features being hepatosplenomegaly, skeletal disease, and cytopenia. Gaucher disease has been classified into three broad phenotypes based upon the presence or absence of neurological involvement: Type 1 (nonneuron...

gaucher disease (gd) is the most common type of lysosomal storage disorder and it is divided into three distinct subtypes. the authors here report four different cases of gaucher disease, with varying clinical manifestations, and the diagnosis of each established by the low level of beta-glucosidase enzyme as well as genetic dna testing. the study also highlights the importance of early diagnos...