| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Angelman syndrome and isovaleric acidemia: What is the link?
|
Lambrecht, Alix
|
|
2015
|
3 |
C |
p. 36-38
3 p.
|
artikel
|
| 2 |
ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics
|
Prabhu, Dolly
|
|
2015
|
3 |
C |
p. 43-46
4 p.
|
artikel
|
| 3 |
An uncommon clinical presentation of relapsing dilated cardiomyopathy with identification of sequence variations in MYNPC3, KCNH2 and mitochondrial tRNA cysteine
|
Guillen Sacoto, Maria J.
|
|
2015
|
3 |
C |
p. 47-54
8 p.
|
artikel
|
| 4 |
A rare case of Niemann–Pick disease type C without neurological involvement in a 66-year-old patient
|
Greenberg, C.R.
|
|
2015
|
3 |
C |
p. 18-20
3 p.
|
artikel
|
| 5 |
Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population
|
Dutta, Atanu Kumar
|
|
2015
|
3 |
C |
p. 33-35
3 p.
|
artikel
|
| 6 |
Detection of glutaric acidemia type 1 in infants through tandem mass spectrometry
|
Babu, Ruby P.
|
|
2015
|
3 |
C |
p. 75-79
5 p.
|
artikel
|
| 7 |
Enzymatic replacement therapy for Hunter disease: Up to 9years experience with 17 patients
|
Parini, Rossella
|
|
2015
|
3 |
C |
p. 65-74
10 p.
|
artikel
|
| 8 |
Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant
|
Arranz, Leonor
|
|
2015
|
3 |
C |
p. 88-91
4 p.
|
artikel
|
| 9 |
Human pulmonary artery endothelial cells in the model of mucopolysaccharidosis VI present a prohypertensive phenotype
|
Golda, Adam
|
|
2015
|
3 |
C |
p. 11-17
7 p.
|
artikel
|
| 10 |
Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate
|
Chuang, Wei-Lien
|
|
2015
|
3 |
C |
p. 55-57
3 p.
|
artikel
|
| 11 |
Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis
|
Beck, Michael
|
|
2015
|
3 |
C |
p. 21-27
7 p.
|
artikel
|
| 12 |
Methylenetetrahydrofolate reductase deficiency alters levels of glutamate and γ-aminobutyric acid in brain tissue
|
Jadavji, N.M.
|
|
2015
|
3 |
C |
p. 1-4
4 p.
|
artikel
|
| 13 |
Minimal hepatic glucose-6-phosphatase-α activity required to sustain survival and prevent hepatocellular adenoma formation in murine glycogen storage disease type Ia
|
Lee, Young Mok
|
|
2015
|
3 |
C |
p. 28-32
5 p.
|
artikel
|
| 14 |
Molecular mechanisms responsible for neuroinflammation and neurological impairments in mevalonate kinase deficiency
|
Bifulco, Maurizio
|
|
2015
|
3 |
C |
p. 42-
1 p.
|
artikel
|
| 15 |
Muscle imaging data in late-onset Pompe disease reveal a correlation between the pre-existing degree of lipomatous muscle alterations and the efficacy of long-term enzyme replacement therapy
|
Gruhn, Kai Michael
|
|
2015
|
3 |
C |
p. 58-64
7 p.
|
artikel
|
| 16 |
Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations
|
Ravn, Kirstine
|
|
2015
|
3 |
C |
p. 5-10
6 p.
|
artikel
|
| 17 |
Physiological competition of brain phenylalanine accretion: Initial pharmacokinetic analyses of aminoisobutyric and methylaminoisobutyric acids in Pahenu2−/− mice
|
Vogel, Kara R.
|
|
2015
|
3 |
C |
p. 80-87
8 p.
|
artikel
|
| 18 |
Rhabdomyolysis in a neonate due to very long chain acyl CoA dehydrogenase deficiency
|
Scott Schwoerer, Jessica
|
|
2015
|
3 |
C |
p. 39-41
3 p.
|
artikel
|
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