| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A CLN8 nonsense mutation in the whole genome sequence of a mixed breed dog with neuronal ceroid lipofuscinosis and Australian Shepherd ancestry
|
Guo, Juyuan
|
|
2014
|
112 |
4 |
p. 302-309
8 p.
|
artikel
|
| 2 |
Editorial Board
|
|
|
2014
|
112 |
4 |
p. IFC-
1 p.
|
artikel
|
| 3 |
Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG
|
Morava, Eva
|
|
2014
|
112 |
4 |
p. 275-279
5 p.
|
artikel
|
| 4 |
Genotypic and phenotypic spectrum in attenuated variants of Lesch–Nyhan disease
|
Fu, Rong
|
|
2014
|
112 |
4 |
p. 280-285
6 p.
|
artikel
|
| 5 |
Intra-articular enzyme replacement therapy with rhIDUA is safe, well-tolerated, and reduces articular GAG storage in the canine model of mucopolysaccharidosis type I
|
Wang, Raymond Y.
|
|
2014
|
112 |
4 |
p. 286-293
8 p.
|
artikel
|
| 6 |
Methionine-induced hyperhomocysteinemia and bleomycin hydrolase deficiency alter the expression of mouse kidney proteins involved in renal disease
|
Suszyńska-Zajczyk, Joanna
|
|
2014
|
112 |
4 |
p. 339-346
8 p.
|
artikel
|
| 7 |
New ways of defining protein and energy relationships in inborn errors of metabolism
|
Humphrey, Maureen
|
|
2014
|
112 |
4 |
p. 247-258
12 p.
|
artikel
|
| 8 |
Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients
|
Berardi, Anna Sara
|
|
2014
|
112 |
4 |
p. 294-301
8 p.
|
artikel
|
| 9 |
Pleiotropic genes for metabolic syndrome and inflammation
|
Kraja, Aldi T.
|
|
2014
|
112 |
4 |
p. 317-338
22 p.
|
artikel
|
| 10 |
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1
|
Fischer, Björn
|
|
2014
|
112 |
4 |
p. 310-316
7 p.
|
artikel
|
| 11 |
Table of Contents
|
|
|
2014
|
112 |
4 |
p. iii-iv
nvt p.
|
artikel
|
| 12 |
Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases
|
Dunbar, Mary
|
|
2014
|
112 |
4 |
p. 259-274
16 p.
|
artikel
|
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