| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A knock-in rat model unravels acute and chronic renal toxicity in glutaric aciduria type I
|
Gonzalez Melo, Mary
|
|
|
134 |
4 |
p. 287-300
|
artikel
|
| 2 |
Alexander disease evolution over time: data from an Italian cohort of pediatric-onset patients
|
Mura, Eleonora
|
|
|
134 |
4 |
p. 353-358
|
artikel
|
| 3 |
Assessing the effects of PMM2 variants on protein stability
|
Quelhas, D.
|
|
|
134 |
4 |
p. 344-352
|
artikel
|
| 4 |
Comprehensive-targeted lipidomic analysis in Niemann-Pick C disease
|
Boenzi, Sara
|
|
|
134 |
4 |
p. 337-343
|
artikel
|
| 5 |
Cover 2 / Ed. Board
|
|
|
|
134 |
4 |
p. IFC
|
artikel
|
| 6 |
Deficiency of the sedoheptulose kinase (Shpk) does not alter the ability of hematopoietic stem cells to rescue cystinosis in the mouse model
|
Goodman, Spencer
|
|
|
134 |
4 |
p. 309-316
|
artikel
|
| 7 |
Long-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A
|
Wijburg, Frits A.
|
|
|
134 |
4 |
p. 317-322
|
artikel
|
| 8 |
Metabolic providers in crisis – Burning out on the road to burnout?
|
Arnold, Georgianne L.
|
|
|
134 |
4 |
p. 285-286
|
artikel
|
| 9 |
Neuropathology of murine Sanfilippo D syndrome
|
Takahashi, Keigo
|
|
|
134 |
4 |
p. 323-329
|
artikel
|
| 10 |
Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes
|
Reynolds, Elizabeth
|
|
|
134 |
4 |
p. 301-308
|
artikel
|
| 11 |
Reduction of glutamate neurotoxicity: A novel therapeutic approach for Niemann-Pick disease, type C1
|
Cougnoux, Antony
|
|
|
134 |
4 |
p. 330-336
|
artikel
|
| 12 |
Table of Contents
|
|
|
|
134 |
4 |
p. iii
|
artikel
|
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