| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Anaplerotic therapy in propionic acidemia
|
Longo, Nicola
|
|
2017
|
122 |
1-2 |
p. 51-59
9 p.
|
artikel
|
| 2 |
A simple method for quantification of plasma globotriaosylsphingosine: Utility for Fabry disease
|
Talbot, Andrew
|
|
2017
|
122 |
1-2 |
p. 121-125
5 p.
|
artikel
|
| 3 |
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency
|
Grünert, Sarah Catharina
|
|
2017
|
122 |
1-2 |
p. 67-75
9 p.
|
artikel
|
| 4 |
Correlation between urinary GAG and anti-idursulfase ERT neutralizing antibodies during treatment with NICIT immune tolerance regimen: A case report
|
Kim, Sarah
|
|
2017
|
122 |
1-2 |
p. 92-99
8 p.
|
artikel
|
| 5 |
Cover 2 / Ed. Board
|
|
|
2017
|
122 |
1-2 |
p. IFC-
1 p.
|
artikel
|
| 6 |
Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease
|
Papadopoulos, Constantinos
|
|
2017
|
122 |
1-2 |
p. 80-85
6 p.
|
artikel
|
| 7 |
High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient
|
Rairikar, Mugdha
|
|
2017
|
122 |
1-2 |
p. 76-79
4 p.
|
artikel
|
| 8 |
Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation
|
Kuiper, Gé-Ann
|
|
2017
|
122 |
1-2 |
p. 86-91
6 p.
|
artikel
|
| 9 |
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening
|
Almannai, Mohammed
|
|
2017
|
122 |
1-2 |
p. 60-66
7 p.
|
artikel
|
| 10 |
Modifier genes: Moving from pathogenesis to therapy
|
McCabe, Edward R.B.
|
|
2017
|
122 |
1-2 |
p. 1-3
3 p.
|
artikel
|
| 11 |
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa
|
Kishnani, Priya S.
|
|
2017
|
122 |
1-2 |
p. 4-17
14 p.
|
artikel
|
| 12 |
Partial rescue of neuropathology in the murine model of PKU following administration of recombinant phenylalanine ammonia lyase (pegvaliase)
|
Goldfinger, Marc
|
|
2017
|
122 |
1-2 |
p. 33-35
3 p.
|
artikel
|
| 13 |
Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature
|
Meijer, O.L.M.
|
|
2017
|
122 |
1-2 |
p. 100-106
7 p.
|
artikel
|
| 14 |
Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation
|
di Salvo, Martino L.
|
|
2017
|
122 |
1-2 |
p. 135-142
8 p.
|
artikel
|
| 15 |
Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials
|
Elstein, Deborah
|
|
2017
|
122 |
1-2 |
p. 113-120
8 p.
|
artikel
|
| 16 |
Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
|
Adang, Laura A.
|
|
2017
|
122 |
1-2 |
p. 18-32
15 p.
|
artikel
|
| 17 |
Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy
|
Xu, Xin
|
|
2017
|
122 |
1-2 |
p. 126-134
9 p.
|
artikel
|
| 18 |
Table of Contents
|
|
|
2017
|
122 |
1-2 |
p. iii-iv
nvt p.
|
artikel
|
| 19 |
The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
|
Harmatz, P.
|
|
2017
|
122 |
1-2 |
p. 107-112
6 p.
|
artikel
|
| 20 |
The relationship between dietary intake, growth and body composition in Phenylketonuria
|
Evans, Maureen
|
|
2017
|
122 |
1-2 |
p. 36-42
7 p.
|
artikel
|
| 21 |
Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia
|
Rivera-Barahona, Ana
|
|
2017
|
122 |
1-2 |
p. 43-50
8 p.
|
artikel
|
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