Zellweger SyndromeSymptoms, Doctors, Treatments, Advances & More
Zellweger Syndrome Overview
Learn About Zellweger Syndrome
- Zellweger syndrome
- CHR
- Cerebrohepatorenal syndrome
- ZS
- ZWS
- Zellweger leukodystrophy
Nancy Braverman is a Medical Genetics specialist and a Pediatrics provider in Baltimore, Maryland. Dr. Braverman is rated as an Elite provider by MediFind in the treatment of Zellweger Syndrome. Her top areas of expertise are Zellweger Syndrome, Chondrodysplasia Punctata Syndrome, X-Linked Chondrodysplasia Punctata 2, and Acromesomelic Dysplasia.
Hans Waterham practices in Amsterdam, Netherlands. Mr. Waterham is rated as an Elite expert by MediFind in the treatment of Zellweger Syndrome. His top areas of expertise are Zellweger Syndrome, Refsum Disease, X-Linked Chondrodysplasia Punctata 2, and Chondrodysplasia Punctata Syndrome.
Ronald Wanders practices in Amsterdam, Netherlands. Mr. Wanders is rated as an Elite expert by MediFind in the treatment of Zellweger Syndrome. His top areas of expertise are Zellweger Syndrome, Refsum Disease, Barth Syndrome, and Infantile Refsum Disease.
Summary: The goal of this observational study is to define the course of the retinal degeneration in a ZSD patient cohort. The objective of this study is to gather information so the investigators can: 1. define the course of the retinal degeneration in a ZSD patient cohort with retinal degeneration 2. define what tests best monitor the progression of the retinal degeneration 3. generate prognostic informa...
Summary: The Peroxisome Biogenesis Disorders (PBD) are a group of inherited disorders due to defects in peroxisome assembly causing complex developmental and metabolic sequelae. In spite of advancements in peroxisome biology, the pathophysiology remains unknown, the spectrum of phenotypes poorly characterized and the natural history not yet systematically reported. Our aims are to further define this popul...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center