| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Biochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome
|
Kan, Shih-hsin
|
|
|
133 |
2 |
p. 185-192
|
artikel
|
| 2 |
Biomarkers for liver disease in urea cycle disorders
|
Nagamani, Sandesh C.S.
|
|
|
133 |
2 |
p. 148-156
|
artikel
|
| 3 |
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants
|
Cotrina-Vinagre, Francisco Javier
|
|
|
133 |
2 |
p. 201-210
|
artikel
|
| 4 |
Cover 2 / Ed. Board
|
|
|
|
133 |
2 |
p. IFC
|
artikel
|
| 5 |
Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB
|
Abreu, Nicolas J.
|
|
|
133 |
2 |
p. 193-200
|
artikel
|
| 6 |
Male but not female mice with severe osteogenesis imperfecta are partially protected from high-fat diet-induced obesity
|
Tauer, Josephine T.
|
|
|
133 |
2 |
p. 211-221
|
artikel
|
| 7 |
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies
|
Himmelreich, Nastassja
|
|
|
133 |
2 |
p. 123-136
|
artikel
|
| 8 |
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations
|
Roux, Charles-Joris
|
|
|
133 |
2 |
p. 222-229
|
artikel
|
| 9 |
Successful orthotopic heart transplantation in CPTII deficiency
|
Arnold, Georgianne L.
|
|
|
133 |
2 |
p. 182-184
|
artikel
|
| 10 |
Table of Contents
|
|
|
|
133 |
2 |
p. iii
|
artikel
|
| 11 |
The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery
|
Gonzalez Melo, Mary
|
|
|
133 |
2 |
p. 157-181
|
artikel
|
| 12 |
Tristetraprolin: A cytosolic regulator of mRNA turnover moonlighting as transcriptional corepressor of gene expression
|
Rodríguez-Gómez, Gabriel
|
|
|
133 |
2 |
p. 137-147
|
artikel
|
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