| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency
|
Puisac, Beatriz
|
|
2013
|
108 |
4 |
p. 232-240
9 p.
|
artikel
|
| 2 |
Assay of heparan-N-sulfamidase in dried leukocytes impregnated in filter paper: A new tool for the identification of Mucopolisaccharidosis IIIA and potentially other lysosomal disorders
|
Civallero, G.
|
|
2013
|
108 |
4 |
p. 267-268
2 p.
|
artikel
|
| 3 |
Chronic myopathy due to immunoglobulin light chain amyloidosis
|
Manoli, Irini
|
|
2013
|
108 |
4 |
p. 249-254
6 p.
|
artikel
|
| 4 |
Development of clinical guidelines for inborn errors of metabolism: Commentary
|
Vockley, Jerry
|
|
2013
|
108 |
4 |
p. 203-205
3 p.
|
artikel
|
| 5 |
DNA methylome profiling using neonatal dried blood spot samples: A proof-of-principle study
|
Hollegaard, Mads Vilhelm
|
|
2013
|
108 |
4 |
p. 225-231
7 p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
2013
|
108 |
4 |
p. IFC-
1 p.
|
artikel
|
| 7 |
Invariant natural killer T cells are phenotypically and functionally altered in Fabry disease
|
Pereira, Catia S.
|
|
2013
|
108 |
4 |
p. 241-248
8 p.
|
artikel
|
| 8 |
Is Parkinson disease associated with lysosomal integral membrane protein type-2?: Challenges in interpreting association data
|
Maniwang, Emerson
|
|
2013
|
108 |
4 |
p. 269-271
3 p.
|
artikel
|
| 9 |
Long-term outcomes of blood phenylalanine concentrations in children with classical phenylketonuria
|
Hartnett, Carol
|
|
2013
|
108 |
4 |
p. 255-258
4 p.
|
artikel
|
| 10 |
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency
|
Del Rizzo, Monica
|
|
2013
|
108 |
4 |
p. 263-266
4 p.
|
artikel
|
| 11 |
Mitochondrial aminoacyl-tRNA synthetases in human disease
|
Konovalova, Svetlana
|
|
2013
|
108 |
4 |
p. 206-211
6 p.
|
artikel
|
| 12 |
Monocarboxylate transporters and mitochondrial creatine kinase protein content in McArdle disease
|
Kitaoka, Yu
|
|
2013
|
108 |
4 |
p. 259-262
4 p.
|
artikel
|
| 13 |
New findings concerning vertebrate porin II — On the relevance of glycine motifs of type-1 VDAC
|
Thinnes, Friedrich P.
|
|
2013
|
108 |
4 |
p. 212-224
13 p.
|
artikel
|
| 14 |
Table of Contents
|
|
|
2013
|
108 |
4 |
p. iii-iv
nvt p.
|
artikel
|
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