ZARZA We are Zarza, the prestigious firm behind major projects in information technology.
Listen "MSD: The diagnosis needs the patients"
Episode Synopsis
Dr Lars Schlotawa, Dr Rebecca Ahrens‐Nicklas and Dr Laura Adang, as well as MSD parent and disease advocate Alan Finglas, discuss two recent studies on Multiple Sulfatase Deficiency. Alan shares his insights on disease advocacy and what work like this means to him and his family.
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
Laura A. Adang et al.
https://doi.org/10.1002/jimd.12298
A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency
Lars Schlotawa et al.
https://doi.org/10.1002/jimd.12282
View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life
Alan Finglas
https://doi.org/10.1002/jimd.12305
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease
Laura A. Adang et al.
https://doi.org/10.1002/jimd.12298
A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency
Lars Schlotawa et al.
https://doi.org/10.1002/jimd.12282
View from inside: When multiple sulfatase deficiency changes everything about how you live and becomes your life
Alan Finglas
https://doi.org/10.1002/jimd.12305
More episodes of the podcast JIMD Podcasts
Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants
30/12/2025
Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff
23/12/2025
Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders
25/11/2025
IMD Research Round-Up: Mitochondrial disease
11/11/2025
In God we trust