scholarly journals IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles

2011 ◽  
Vol 32 (6) ◽  
pp. E2189-E2210 ◽  
Author(s):  
Francesca Bertola ◽  
Mirella Filocamo ◽  
Giorgio Casati ◽  
Matthew Mort ◽  
Camillo Rosano ◽  
...  
Keyword(s):  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Mutational Profiling ◽  
Identification And Characterization

Identification and Characterization of the Molecular Lesion Causing Mucopolysaccharidosis Type I in Cats

1999 ◽  
Vol 67 (2) ◽  
pp. 106-112 ◽  
Author(s):  
Xingxuan He ◽  
Chi-Ming Li ◽  
Calogera M. Simonaro ◽  
Qi Wan ◽  
Mark E. Haskins ◽  
...  
Keyword(s):  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Identification And Characterization

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

2003 ◽  
Vol 78 (1) ◽  
pp. 37-43 ◽  
Author(s):  
Ursula Matte ◽  
Gouri Yogalingam ◽  
Doug Brooks ◽  
Sandra Leistner ◽  
Ida Schwartz ◽  
...  
Keyword(s):  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Identification And Characterization ◽  
New Mutations

scholarly journals Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy

2007 ◽  
Vol 74 (6) ◽  
pp. 429-438 ◽  
Author(s):  
Mayra F. Garcia-Rivera ◽  
Leah E. Colvin-Wanshura ◽  
Matthew S. Nelson ◽  
Zhenhong Nan ◽  
Shaukat A. Khan ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Stem Cell ◽  
Mouse Model ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Human Stem Cell ◽  
Preclinical Testing ◽  
Cell And Gene Therapy

scholarly journals Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

2019 ◽  
Vol 33 (8) ◽  
Author(s):  
Mohammad Taghikhani ◽  
Shohreh Khatami ◽  
Mohammad Abdi ◽  
Mohammad Said Hakhamaneshi ◽  
Mohammad Reza Alaei ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Iranian Patients
Sign in / Sign up

Export Citation Format

Share Document