AIMC Topic: Enzyme Replacement Therapy

Clear Filters Showing 1 to 2 of 2 articles

Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.

International journal of molecular sciences Jan 17, 2025
Pompe disease is a neuromuscular disorder caused by a deficiency of the enzyme acid alpha-glucosidase (), which leads to lysosomal glycogen accumulation and progressive development of muscle weakness. Two distinct isoforms have been identified. In th...
Humans Artificial Intelligence Precision Medicine Epigenesis, Genetic alpha-Glucosidases Enzyme Replacement Therapy Glycogen Storage Disease Type II
View on PubMed DOI

Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.

Orphanet journal of rare diseases Sep 22, 2020
BACKGROUND: Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the identification of patients at ris...
Humans Machine Learning Female Risk Factors Adult Male Incidence Registries Gaucher Disease Glucosylceramidase Enzyme Replacement Therapy
View on PubMed DOI
Popular Topics
Recent Journals