| no |
title |
author |
magazine |
year |
volume |
issue |
page(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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 4 |
Editorial Board
|
|
|
2016
|
117 |
4 |
p. IFC-
1 p.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 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.
|
article
|
| 9 |
Table of Contents
|
|
|
2016
|
117 |
4 |
p. iii-
1 p.
|
article
|
| 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.
|
article
|
| 11 |
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine
|
Gahl, William A.
|
|
2016
|
117 |
4 |
p. 393-400
8 p.
|
article
|
Journal description