| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Cover 2 / Ed. Board
|
|
|
2009
|
97 |
3 |
p. IFC-
1 p.
|
artikel
|
| 2 |
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients
|
Bank, Ruud A.
|
|
2009
|
97 |
3 |
p. 196-201
6 p.
|
artikel
|
| 3 |
Gb3/creatinine biomarkers for Fabry disease: Issues to consider
|
Auray-Blais, Christiane
|
|
2009
|
97 |
3 |
p. 237-
1 p.
|
artikel
|
| 4 |
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency
|
Karačić, Iva
|
|
2009
|
97 |
3 |
p. 165-171
7 p.
|
artikel
|
| 5 |
Hermansky–Pudlak syndrome type 1 in patients of Indian descent
|
Vincent, Lisa M.
|
|
2009
|
97 |
3 |
p. 227-233
7 p.
|
artikel
|
| 6 |
High frequency of acid α-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population
|
Kumamoto, Shingo
|
|
2009
|
97 |
3 |
p. 190-195
6 p.
|
artikel
|
| 7 |
Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses
|
Burton, Barbara K.
|
|
2009
|
97 |
3 |
p. 234-236
3 p.
|
artikel
|
| 8 |
Long-term outcome in methylmalonic aciduria: A series of 30 French patients
|
Cosson, M.A.
|
|
2009
|
97 |
3 |
p. 172-178
7 p.
|
artikel
|
| 9 |
Mechanism of shortened bones in mucopolysaccharidosis VII
|
Metcalf, Jason A.
|
|
2009
|
97 |
3 |
p. 202-211
10 p.
|
artikel
|
| 10 |
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement
|
Leshinsky-Silver, E.
|
|
2009
|
97 |
3 |
p. 185-189
5 p.
|
artikel
|
| 11 |
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method
|
Hubbard, Walter C.
|
|
2009
|
97 |
3 |
p. 212-220
9 p.
|
artikel
|
| 12 |
Table of Contents
|
|
|
2009
|
97 |
3 |
p. iii-iv
nvt p.
|
artikel
|
| 13 |
The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome
|
Brahimi, N.
|
|
2009
|
97 |
3 |
p. 221-226
6 p.
|
artikel
|
| 14 |
Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNATrp in patients with Leigh syndrome
|
Mkaouar-Rebai, Emna
|
|
2009
|
97 |
3 |
p. 179-184
6 p.
|
artikel
|
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