nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II
|
Ko, Ah-Ra |
|
2016 |
117 |
4 |
p. 447-455 9 p. |
artikel |
2 |
A clinical trial of safety and tolerability for the selective dopamine D1 receptor antagonist ecopipam in patients with Lesch-Nyhan disease
|
Khasnavis, Tanya |
|
2016 |
117 |
4 |
p. 401-406 6 p. |
artikel |
3 |
Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
|
Lin, Hsiang-Yu |
|
2016 |
117 |
4 |
p. 431-437 7 p. |
artikel |
4 |
Editorial Board
|
|
|
2016 |
117 |
4 |
p. IFC- 1 p. |
artikel |
5 |
Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studies
|
Xue, Yong |
|
2016 |
117 |
4 |
p. 419-426 8 p. |
artikel |
6 |
Elevated TNF-α is associated with pain and physical disability in mucopolysaccharidosis types I, II, and VI
|
Polgreen, Lynda E. |
|
2016 |
117 |
4 |
p. 427-430 4 p. |
artikel |
7 |
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation
|
El-Hattab, Ayman W. |
|
2016 |
117 |
4 |
p. 407-412 6 p. |
artikel |
8 |
Observational clinical study of 22 adult-onset Pompe disease patients undergoing enzyme replacement therapy over 5years
|
Stepien, Karolina M. |
|
2016 |
117 |
4 |
p. 413-418 6 p. |
artikel |
9 |
Table of Contents
|
|
|
2016 |
117 |
4 |
p. iii- 1 p. |
artikel |
10 |
The natural history of growth in patients with Hunter syndrome: Data from the Hunter Outcome Survey (HOS)
|
Parini, Rossella |
|
2016 |
117 |
4 |
p. 438-446 9 p. |
artikel |
11 |
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
|
Gahl, William A. |
|
2016 |
117 |
4 |
p. 393-400 8 p. |
artikel |