| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
|
Sidhu, Rohini
|
|
|
129 |
4 |
p. 292-302
|
artikel
|
| 2 |
Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case
|
Dobrowolski, Steven F.
|
|
|
129 |
4 |
p. 272-277
|
artikel
|
| 3 |
Cover 2 / Ed. Board
|
|
|
|
129 |
4 |
p. IFC
|
artikel
|
| 4 |
Effect of eliglustat on the pharmacokinetics of digoxin, metoprolol, and oral contraceptives and absorption of eliglustat when coadministered with acid-reducing agents
|
Thibault, Nathan
|
|
|
129 |
4 |
p. 278-285
|
artikel
|
| 5 |
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy
|
Nair, Shiny
|
|
|
129 |
4 |
p. 286-291
|
artikel
|
| 6 |
Inuit metabolism revisited: what drove the selective sweep of CPT1a L479?
|
Hale, Nicola
|
|
|
129 |
4 |
p. 255-271
|
artikel
|
| 7 |
Table of Contents
|
|
|
|
129 |
4 |
p. iv
|
artikel
|
| 8 |
The Undiagnosed Diseases Network International: Five years and more!
|
Taruscio, D.
|
|
|
129 |
4 |
p. 243-254
|
artikel
|
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