| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A cross-sectional, mono-centric pilot study of insulin resistance in enzyme replacement therapy patients with Gaucher type I without overweight
|
Kalkan Ucar, Sema
|
|
2009
|
96 |
1 |
p. 50-51
2 p.
|
artikel
|
| 2 |
A dose-optimization trial of laronidase (Aldurazyme®) in patients with mucopolysaccharidosis I
|
Giugliani, Roberto
|
|
2009
|
96 |
1 |
p. 13-19
7 p.
|
artikel
|
| 3 |
A retrospective analysis of the potential impact of IgG antibodies to agalsidase β on efficacy during enzyme replacement therapy for Fabry disease
|
Bénichou, Bernard
|
|
2009
|
96 |
1 |
p. 4-12
9 p.
|
artikel
|
| 4 |
Citrin deficiency, a perplexing global disorder
|
Dimmock, David
|
|
2009
|
96 |
1 |
p. 44-49
6 p.
|
artikel
|
| 5 |
Clinical research for rare disease: Opportunities, challenges, and solutions
|
Griggs, Robert C.
|
|
2009
|
96 |
1 |
p. 20-26
7 p.
|
artikel
|
| 6 |
Cover 2 / Ed. Board
|
|
|
2009
|
96 |
1 |
p. IFC-
1 p.
|
artikel
|
| 7 |
Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency
|
Dhar, S.U.
|
|
2009
|
96 |
1 |
p. 38-43
6 p.
|
artikel
|
| 8 |
Immune response to enzyme replacement therapy in Fabry disease: Impact on clinical outcome?
|
Hollak, C.E.M.
|
|
2009
|
96 |
1 |
p. 1-3
3 p.
|
artikel
|
| 9 |
Structure–function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib
|
Pan, Chi-Jiunn
|
|
2009
|
96 |
1 |
p. 32-37
6 p.
|
artikel
|
| 10 |
Table of Contents
|
|
|
2009
|
96 |
1 |
p. iii-iv
nvt p.
|
artikel
|
| 11 |
The activity of wild type and mutant phenylalanine hydroxylase with respect to the C-oxidation of phenylalanine and the S-oxidation of S-carboxymethyl-l-cysteine
|
Steventon, Glyn B.
|
|
2009
|
96 |
1 |
p. 27-31
5 p.
|
artikel
|
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