| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis
|
Bo, Ryosuke
|
|
2016
|
6 |
C |
p. 1-4
4 p.
|
artikel
|
| 2 |
Analysis of body composition and nutritional status in Brazilian phenylketonuria patients
|
Mazzola, Priscila Nicolao
|
|
2016
|
6 |
C |
p. 16-20
5 p.
|
artikel
|
| 3 |
A novel mitochondrial tRNAAla gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease
|
Filosto, Massimiliano
|
|
2016
|
6 |
C |
p. 70-73
4 p.
|
artikel
|
| 4 |
Clinical relevance of the discrepancy in phenylalanine concentrations analyzed using tandem mass spectrometry compared with ion-exchange chromatography in phenylketonuria
|
Stroup, Bridget M.
|
|
2016
|
6 |
C |
p. 21-26
6 p.
|
artikel
|
| 5 |
First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice
|
Wolf, Barry
|
|
2016
|
6 |
C |
p. 74-76
3 p.
|
artikel
|
| 6 |
Patient's weight can decide about spending millions on enzyme replacement therapy in MPS II
|
Bik-Multanowski, Miroslaw
|
|
2016
|
6 |
C |
p. 5-7
3 p.
|
artikel
|
| 7 |
Phenylketonuria (PKU): A problem solved?
|
Brown, Christine S.
|
|
2016
|
6 |
C |
p. 8-12
5 p.
|
artikel
|
| 8 |
Phone-based motivational interviewing to increase self-efficacy in individuals with phenylketonuria
|
Viau, Krista S.
|
|
2016
|
6 |
C |
p. 27-33
7 p.
|
artikel
|
| 9 |
Preferred transduction with AAV8 and AAV9 via thalamic administration in the MPS IIIB model: A comparison of four rAAV serotypes
|
Gilkes, J.A.
|
|
2016
|
6 |
C |
p. 48-54
7 p.
|
artikel
|
| 10 |
Protein and calorie intakes in adult and pediatric subjects with urea cycle disorders participating in clinical trials of glycerol phenylbutyrate
|
Hook, Debra
|
|
2016
|
6 |
C |
p. 34-40
7 p.
|
artikel
|
| 11 |
Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation
|
Jaeger, B.
|
|
2016
|
6 |
C |
p. 60-63
4 p.
|
artikel
|
| 12 |
Successful intrauterine treatment of a patient with cobalamin C defect
|
Trefz, Friedrich K.
|
|
2016
|
6 |
C |
p. 55-59
5 p.
|
artikel
|
| 13 |
Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease
|
Mhanni, A.A.
|
|
2016
|
6 |
C |
p. 13-15
3 p.
|
artikel
|
| 14 |
The expanding phenotype of MELAS caused by the m.3291T>C mutation in the MT-TL1 gene
|
Kelland, E.
|
|
2016
|
6 |
C |
p. 64-69
6 p.
|
artikel
|
| 15 |
The neurobehavioral phenotype in mucopolysaccharidosis Type IIIB: An exploratory study
|
Shapiro, E.
|
|
2016
|
6 |
C |
p. 41-47
7 p.
|
artikel
|
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