| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
|
Potluri, Prasanth
|
|
2009
|
96 |
4 |
p. 189-195
7 p.
|
artikel
|
| 2 |
A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1
|
Kishnani, P.S.
|
|
2009
|
96 |
4 |
p. 164-170
7 p.
|
artikel
|
| 3 |
Cover 2 / Ed. Board
|
|
|
2009
|
96 |
4 |
p. IFC-
1 p.
|
artikel
|
| 4 |
Diltiazem, a L-type Ca2+ channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells
|
Rigat, Brigitte
|
|
2009
|
96 |
4 |
p. 225-232
8 p.
|
artikel
|
| 5 |
Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry
|
Beesley, Clare E.
|
|
2009
|
96 |
4 |
p. 218-224
7 p.
|
artikel
|
| 6 |
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
|
Holla, Øystein L.
|
|
2009
|
96 |
4 |
p. 245-252
8 p.
|
artikel
|
| 7 |
Epigenetic modification of the gene for the vitamin B12 chaperone MMACHC can result in increased tumorigenicity and methionine dependence
|
Loewy, Amanda D.
|
|
2009
|
96 |
4 |
p. 261-267
7 p.
|
artikel
|
| 8 |
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts
|
Higashidani, Aya
|
|
2009
|
96 |
4 |
p. 268-272
5 p.
|
artikel
|
| 9 |
GS2 as a retinol transacylase and as a catalytic dyad independent regulator of retinylester accretion
|
Gao, Jay G.
|
|
2009
|
96 |
4 |
p. 253-260
8 p.
|
artikel
|
| 10 |
High frequency of large genomic deletions in the PCCA gene causing propionic acidemia
|
Desviat, Lourdes R.
|
|
2009
|
96 |
4 |
p. 171-176
6 p.
|
artikel
|
| 11 |
Lessons learned from the gene therapy trial for ornithine transcarbamylase deficiency
|
Wilson, James M.
|
|
2009
|
96 |
4 |
p. 151-157
7 p.
|
artikel
|
| 12 |
Molecular interaction of imino sugars with human α-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease
|
Sugawara, Kanako
|
|
2009
|
96 |
4 |
p. 233-238
6 p.
|
artikel
|
| 13 |
Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches
|
Takikita, Shoichi
|
|
2009
|
96 |
4 |
p. 208-217
10 p.
|
artikel
|
| 14 |
N- and C-terminal domains in human holocarboxylase synthetase participate in substrate recognition
|
Hassan, Yousef I.
|
|
2009
|
96 |
4 |
p. 183-188
6 p.
|
artikel
|
| 15 |
Optimizing the use of sapropterin (BH4) in the management of phenylketonuria
|
Blau, Nenad
|
|
2009
|
96 |
4 |
p. 158-163
6 p.
|
artikel
|
| 16 |
Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis
|
Hoeksma, Marieke
|
|
2009
|
96 |
4 |
p. 177-182
6 p.
|
artikel
|
| 17 |
Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects
|
Pagniez-Mammeri, Hélène
|
|
2009
|
96 |
4 |
p. 196-200
5 p.
|
artikel
|
| 18 |
Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry
|
Mercimek-Mahmutoglu, Saadet
|
|
2009
|
96 |
4 |
p. 273-275
3 p.
|
artikel
|
| 19 |
Table of Contents
|
|
|
2009
|
96 |
4 |
p. iii-iv
nvt p.
|
artikel
|
| 20 |
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations
|
Greenberg, Cheryl R.
|
|
2009
|
96 |
4 |
p. 201-207
7 p.
|
artikel
|
| 21 |
Tumor necrosis factor-alpha deficiency retards early fatty-streak lesion by influencing the expression of inflammatory factors in apoE-null mice
|
Xiao, Ning
|
|
2009
|
96 |
4 |
p. 239-244
6 p.
|
artikel
|
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