| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Achieving efficacy in subjects with sustained pegvaliase-neutralizing antibody responses
|
Aryal, Madhukar
|
|
|
134 |
3 |
p. 235-242
|
artikel
|
| 2 |
Correlations of blood and brain biochemistry in phenylketonuria: Results from the Pah-enu2 PKU mouse
|
Dijkstra, Allysa M.
|
|
|
134 |
3 |
p. 250-256
|
artikel
|
| 3 |
Corrigendum to eP296-The yield of thorough record review in the Undiagnosed Diseases Network, Volume 132, Supplement 1, April 2021, Page S187, https://doi.org/10.1016/S1096-7192(21)00378-4
|
Findley, Laurie
|
|
|
134 |
3 |
p. 281
|
artikel
|
| 4 |
Cover 2 / Ed. Board
|
|
|
|
134 |
3 |
p. IFC
|
artikel
|
| 5 |
Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype
|
Enns, Gregory M.
|
|
|
134 |
3 |
p. 217-222
|
artikel
|
| 6 |
Editorial Board
|
|
|
|
134 |
3 |
p. iii
|
artikel
|
| 7 |
Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3
|
Daykin, Emily
|
|
|
134 |
3 |
p. 274-280
|
artikel
|
| 8 |
Metabolic perturbations mediated by propionyl-CoA accumulation in organs of mouse model of propionic acidemia
|
He, Wentao
|
|
|
134 |
3 |
p. 257-266
|
artikel
|
| 9 |
Natural history of children and adults with phenylketonuria in the NBS-PKU Connect registry
|
Kenneson, Aileen
|
|
|
134 |
3 |
p. 243-249
|
artikel
|
| 10 |
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature
|
Paschall, Anna
|
|
|
134 |
3 |
p. 223-234
|
artikel
|
| 11 |
Variants in the MIPEP gene presenting with complex neurological phenotype without cardiomyopathy, impair OXPHOS protein maturation and lead to a reduced OXPHOS abundance in patient cells
|
Pulman, Juliette
|
|
|
134 |
3 |
p. 267-273
|
artikel
|
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