نتایج جستجو برای: gaucher type 1

تعداد نتایج: 3648308  

Journal: :GSC Advanced Research and Reviews 2022

Gaucher disease is an autosomal recessive genetic caused by a deficiency in lysosomal enzyme, beta glucocerebrosidase. This characterized deposits of glucosylceramide liver, spleen and bone marrow cells. The presentation MG very heterogeneous, ranging from the asymptomatic form to lethal form. Neurological forms (types 2 3) are present only 5% patients with less frequent than non-neurological (...

Journal: :Clinical advances in hematology & oncology : H&O 2012
Pramod K Mistry Joel A Weinthal Neal J Weinreb

Gaucher disease is an inherited lysosomal storage disorder caused by mutations in the gene that encodes the lysosomal enzyme glucocerebrosidase. Inadequate enzymatic activity causes cells to become engorged due to an accumulation of glycolipids. Engorged cells then accumulate in various organs, resulting in a range of signs and symptoms. Gaucher disease occurs worldwide but is more common among...

2016
Jennifer Ibrahim Lisa H. Underhill John S. Taylor Jennifer Angell M. Judith Peterschmitt

Eliglustat is a recently approved oral therapy in the United States and Europe for adults with Gaucher disease type 1 who are CYP2D6 extensive, intermediate, or poor metabolizers (> 90% of patients) that has been shown to decrease spleen and liver volume and increase hemoglobin concentrations and platelet counts in untreated adults with Gaucher disease type 1 and maintain these parameters in pa...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 1988
S Tsuji B M Martin J A Barranger B K Stubblefield M E LaMarca E I Ginns

Nucleotide sequence analysis of a genomic clone from an Ashkenazic Jewish patient with type 1 Gaucher disease revealed a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change results in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confi...

Journal: :journal of reproduction and infertility 0

background: gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase enzyme. in this study, a case of enzyme-treated woman during her pregnancy was reported. case presentation: a 27-year old woman with type i gaucher disease was managed for pregnancy until delivery. she underwent elective splenectomy at age 26 years and was treated with 19-38 units/kg of imiglucer...

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