scholarly journals New hope for an old battle: Fighting Hunter disease

2021 ◽  
Author(s):  
Antonie S Daher ◽  
Ana M Martins
Keyword(s):  
Hunter Disease

Female twin with hunter disease due to nonrandom inactivation of the X-chromosome: A consequence of twinning

1992 ◽  
Vol 44 (6) ◽  
pp. 834-838 ◽  
Author(s):  
Bryan Winchester ◽  
Elisabeth Young ◽  
Stella Geddes ◽  
Sally Genet ◽  
Jane Hurst ◽  
...  
Keyword(s):  
X Chromosome ◽  
Hunter Disease

Incidence of mucopolysaccharidoses in Israel: Is hunter disease a ?Jewish disease??

1980 ◽  
Vol 56 (2) ◽  
pp. 221-223 ◽  
Author(s):  
T. Schaap ◽  
G. Bach
Keyword(s):  
Hunter Disease

A novel mutation, Y103X, and exon skipping in a patient with Hunter disease

2000 ◽  
Vol 15 (4) ◽  
pp. 389-389 ◽  
Author(s):  
Gloria Bonuccelli ◽  
Mirella Filocamo ◽  
Stefano Regis ◽  
Fabio Corsolini ◽  
Raffaella Mazzotti ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Exon Skipping ◽  
Hunter Disease

Enzyme replacement therapy for the treatment of Hunter disease: A systematic review with narrative synthesis and meta-analysis

2020 ◽  
Vol 131 (1-2) ◽  
pp. 206-210
Author(s):  
Philip Erick Wikman-Jorgensen ◽  
Ana López Amorós ◽  
Jorge Peris García ◽  
Pedro Jesús Esteve Atienzar ◽  
Ruth Cañizares Navarro ◽  
...  
Keyword(s):  
Systematic Review ◽  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Meta Analysis ◽  
Narrative Synthesis ◽  
Hunter Disease ◽  
Enzyme Replacement

An 8-bp deletion in exon B of the iduronate-2-sulphatase gene in a case of Hunter disease

1993 ◽  
Vol 2 (7) ◽  
pp. 1063-1065 ◽  
Author(s):  
Sandra Goldenfum ◽  
Sue Malcolm ◽  
Bryan Winchester
Keyword(s):  
Hunter Disease

A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

2001 ◽  
Vol 24 (6) ◽  
pp. 675-680 ◽  
Author(s):  
Ya. V. Voznyi ◽  
J. L. M. Keulemans ◽  
O. P. van Diggelen
Keyword(s):  
Enzyme Assay ◽  
Hunter Disease ◽  
Mps Ii
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