Publications:

"Growth patterns in children with mucopolysaccharidosis type I-Hurler after hematopoietic stem cell transplantation: Comparison with untreated patients".

Molecular Genetics And Metabolism Reports

Cattoni, Alessandro A; Chiaraluce, Sofia S; Gasperini, Serena S; Molinari, Silvia S; Biondi, Andrea A; Rovelli, Attilio A; Parini, Rossella R

Publication Date: 2021-09

Variant appearance in text: IDUA: 159C>A

PubMed Link: 34408967

Variant Present in the following documents:

• main.pdf

View BVdb publication page

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet Journal Of Rare Diseases

Ou, Li L; Przybilla, Michael J MJ; Whitley, Chester B CB

Publication Date: 2017-07-04

Variant appearance in text: IDUA: C53X

PubMed Link: 28676128

Variant Present in the following documents:

• Main text
• 13023_2017_Article_678.pdf

View BVdb publication page