| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A mixed breed dog with neuronal ceroid lipofuscinosis is homozygous for a CLN5 nonsense mutation previously identified in Border Collies and Australian Cattle Dogs
|
Villani, Natalie A.
|
|
|
127 |
1 |
p. 107-115
|
artikel
|
| 2 |
Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism
|
Ng, Hoi Ioi
|
|
|
127 |
1 |
p. 45-50
|
artikel
|
| 3 |
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook
|
Himmelreich, Nastassja
|
|
|
127 |
1 |
p. 12-22
|
artikel
|
| 4 |
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis
|
Schmutz, Isabelle
|
|
|
127 |
1 |
p. 95-106
|
artikel
|
| 5 |
Clinical and biochemical footprints of inherited metabolic diseases. I. Movement disorders
|
Ferreira, Carlos R.
|
|
|
127 |
1 |
p. 28-30
|
artikel
|
| 6 |
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency
|
Rovelli, Valentina
|
|
|
127 |
1 |
p. 64-73
|
artikel
|
| 7 |
Cover 2 / Ed. Board
|
|
|
|
127 |
1 |
p. IFC
|
artikel
|
| 8 |
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid
|
Haijes, Hanneke A.
|
|
|
127 |
1 |
p. 51-57
|
artikel
|
| 9 |
Inter-assay variability influences migalastat amenability assessments among Fabry disease variants
|
Oommen, Susan
|
|
|
127 |
1 |
p. 74-85
|
artikel
|
| 10 |
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
|
Muntau, Ania C.
|
|
|
127 |
1 |
p. 1-11
|
artikel
|
| 11 |
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial
|
Ramaswami, Uma
|
|
|
127 |
1 |
p. 86-94
|
artikel
|
| 12 |
Lysine demethylases KDM6A and UTY: The X and Y of histone demethylation
|
Gažová, Iveta
|
|
|
127 |
1 |
p. 31-44
|
artikel
|
| 13 |
Ophthalmological findings in Gaucher disease
|
Eghbali, Areian
|
|
|
127 |
1 |
p. 23-27
|
artikel
|
| 14 |
Presence of three mutations in the fumarylacetoacetate hydrolase gene in a patient with atypical symptoms of hereditary tyrosinemia type I
|
Morrow, Geneviève
|
|
|
127 |
1 |
p. 58-63
|
artikel
|
| 15 |
Table of Contents
|
|
|
|
127 |
1 |
p. iii-iv
|
artikel
|
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