Related Experiment Video
Updated: Feb 6, 2026

Detection of Antibodies That Neutralize the Cellular Uptake of Enzyme Replacement Therapies with a Cell-based Assay
Published on: September 10, 2018
Enzyme Replacement Therapy in a Gaucher Family
Neslihan Erdem1, Tahir Buran2, Ilhami Berber3
1Celal Bayar University, Department of Internal Medicine, Turkiye.
Gaucher disease, a genetic lipid storage disorder, shows improved quality of life with enzyme replacement therapy. Early diagnosis and family screening are crucial for effective management of this rare condition.
Area of Science:
- Biochemistry
- Genetics
- Rare Diseases
Background:
- Gaucher disease is a lysosomal storage disorder caused by beta-glucocerebrosidase deficiency.
- Autosomal recessive inheritance pattern leads to glucocerebroside accumulation in organs like the liver, spleen, brain, and bone marrow.
- This accumulation results in significant cellular dysfunction and disease manifestations.
More Related Videos
21:55Engineering and Evolution of Synthetic Adeno-Associated Virus AAV Gene Therapy Vectors via DNA Family Shuffling
Published on: April 2, 2012
10:56A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes
Published on: September 15, 2018
Related Concept Videos
Family Therapy
Strategic Family Therapy
Strategic family therapy emphasizes resolving communication barriers and improving problem-solving abilities...
Continuous Renal Replacement Therapy
Protein Families
Protein Families
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Gene Families