Learn About Cholesteryl Ester Storage Disease
- Cholesteryl ester storage disease
- CESD
- Cholesterol ester hydrolase deficiency
- Cholesterol ester storage disease
Dominique Plantaz practices in Grenoble, France. Plantaz is rated as an Elite expert by MediFind in the treatment of Cholesteryl Ester Storage Disease. Their top areas of expertise are Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency, Wolman Disease, Bone Marrow Transplant, and Splenectomy.
Simon Jones practices in Manchester, United Kingdom. Mr. Jones is rated as an Elite expert by MediFind in the treatment of Cholesteryl Ester Storage Disease. His top areas of expertise are Cholesteryl Ester Storage Disease, Mucopolysaccharidoses (MPS), Wolman Disease, Lysosomal Acid Lipase Deficiency, and Bone Marrow Transplant.
Barbara Burton is a Medical Genetics specialist and a Pediatrics provider in Chicago, Illinois. Dr. Burton is rated as an Elite provider by MediFind in the treatment of Cholesteryl Ester Storage Disease. Her top areas of expertise are Mucopolysaccharidosis Type 2 (MPS II, Hunter Syndrome), Phenylketonuria (PKU), Mucopolysaccharidoses (MPS), and Cholesteryl Ester Storage Disease.
Summary: This is an observational, multi-center, international disease registry designed to collect longitudinal data and create a knowledge base that will be utilized to improve the care and treatment of patients with LAL Deficiency. Participation in the Registry by both physicians and patients is voluntary.
Summary: For detailed information, please view our study website: https://pearltrial.ucsf.edu/ The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center