| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes
|
Strauss, Kevin A.
|
|
|
129 |
3 |
p. 193-206
|
artikel
|
| 2 |
Carnitine uptake defect due to a 5′UTR mutation in a pedigree with false positives and false negatives on Newborn screening
|
Verbeeten, Kate C.
|
|
|
129 |
3 |
p. 213-218
|
artikel
|
| 3 |
Cover 2 / Ed. Board
|
|
|
|
129 |
3 |
p. IFC
|
artikel
|
| 4 |
Does the 48-hour BH4 loading test miss responsive PKU patients?
|
van Wegberg, Annemiek M.J.
|
|
|
129 |
3 |
p. 186-192
|
artikel
|
| 5 |
Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency
|
Anderson, Afrouz
|
|
|
129 |
3 |
p. 207-212
|
artikel
|
| 6 |
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement
|
Friederich, Marisa W.
|
|
|
129 |
3 |
p. 236-242
|
artikel
|
| 7 |
Table of Contents
|
|
|
|
129 |
3 |
p. iii
|
artikel
|
| 8 |
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes
|
Welsink-Karssies, Mendy M.
|
|
|
129 |
3 |
p. 171-176
|
artikel
|
| 9 |
The long-term safety and efficacy of vestronidase alfa, rhGUS enzyme replacement therapy, in subjects with mucopolysaccharidosis VII
|
Wang, Raymond Y.
|
|
|
129 |
3 |
p. 219-227
|
artikel
|
| 10 |
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis
|
Lang, Frederick M.
|
|
|
129 |
3 |
p. 228-235
|
artikel
|
| 11 |
5-year retrospective analysis of patients with phenylketonuria (PKU) and hyperphenylalaninemia treated at two specialized clinics
|
Levy, Harvey
|
|
|
129 |
3 |
p. 177-185
|
artikel
|
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