| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel HEXB mutation and its structural effects in juvenile Sandhoff disease
|
Wang, S.Z.
|
|
2008
|
95 |
4 |
p. 236-238
3 p.
|
artikel
|
| 2 |
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screening
|
Jethva, Reena
|
|
2008
|
95 |
4 |
p. 241-242
2 p.
|
artikel
|
| 3 |
Cover 2 / Ed. Board
|
|
|
2008
|
95 |
4 |
p. IFC-
1 p.
|
artikel
|
| 4 |
Duarte (DG) galactosemia: A pilot study of biochemical and neurodevelopmental assessment in children detected by newborn screening
|
Ficicioglu, Can
|
|
2008
|
95 |
4 |
p. 206-212
7 p.
|
artikel
|
| 5 |
Enzyme replacement therapy in Fabry disease: Towards a better understanding of the implications of antibody formation and dose
|
Hollak, C.E.M.
|
|
2008
|
95 |
4 |
p. 239-240
2 p.
|
artikel
|
| 6 |
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib
|
Chen, Shih-Yin
|
|
2008
|
95 |
4 |
p. 220-223
4 p.
|
artikel
|
| 7 |
Functional and metabolic implications of biotin deficiency for the rat heart
|
Velázquez-Arellano, Antonio
|
|
2008
|
95 |
4 |
p. 213-219
7 p.
|
artikel
|
| 8 |
Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: A case study
|
Case, Laura E.
|
|
2008
|
95 |
4 |
p. 233-235
3 p.
|
artikel
|
| 9 |
Management of a patient with holocarboxylase synthetase deficiency
|
Van Hove, Johan L.K.
|
|
2008
|
95 |
4 |
p. 201-205
5 p.
|
artikel
|
| 10 |
MTTP variants and body mass index, waist circumference and serum cholesterol level: Association analyses in 7582 participants of the KORA study cohort
|
Böhme, Mike
|
|
2008
|
95 |
4 |
p. 229-232
4 p.
|
artikel
|
| 11 |
Novel sequence variants of the α-galactosidase A gene in patients with Fabry disease
|
Erdős, Melinda
|
|
2008
|
95 |
4 |
p. 224-228
5 p.
|
artikel
|
| 12 |
Short-chain acyl-coenzyme A dehydrogenase deficiency
|
Jethva, Reena
|
|
2008
|
95 |
4 |
p. 195-200
6 p.
|
artikel
|
| 13 |
Table of Contents
|
|
|
2008
|
95 |
4 |
p. iii-iv
nvt p.
|
artikel
|
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