| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Beyond mRNA: The role of non-coding RNAs in normal and aberrant hematopoiesis
|
Wilkes, Mark C.
|
|
2017
|
122 |
3 |
p. 28-38
|
artikel
|
| 2 |
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California
|
Gallant, N.M.
|
|
2017
|
122 |
3 |
p. 76-84
|
artikel
|
| 3 |
Contribution of inflammatory pathways to Fabry disease pathogenesis
|
Rozenfeld, Paula
|
|
2017
|
122 |
3 |
p. 19-27
|
artikel
|
| 4 |
Cover 2 / Ed. Board
|
|
|
2017
|
122 |
3 |
p. IFC
|
artikel
|
| 5 |
Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency
|
Shin, Ha Kyung
|
|
2017
|
122 |
3 |
p. 61-66
|
artikel
|
| 6 |
Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians
|
Mehta, Atul
|
|
2017
|
122 |
3 |
p. 122-129
|
artikel
|
| 7 |
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients
|
Lebigot, E.
|
|
2017
|
122 |
3 |
p. 85-94
|
artikel
|
| 8 |
Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency
|
Preisler, Nicolai
|
|
2017
|
122 |
3 |
p. 117-121
|
artikel
|
| 9 |
Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G “late-onset” GAA variant
|
Rairikar, Mugdha V.
|
|
2017
|
122 |
3 |
p. 99-107
|
artikel
|
| 10 |
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa
|
Decostre, Valérie
|
|
2017
|
122 |
3 |
p. 108-116
|
artikel
|
| 11 |
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots
|
Armangue, Thais
|
|
2017
|
122 |
3 |
p. 134-139
|
artikel
|
| 12 |
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity
|
Tajima, Go
|
|
2017
|
122 |
3 |
p. 67-75
|
artikel
|
| 13 |
Quantitation of phenylbutyrate metabolites by UPLC-MS/MS demonstrates inverse correlation of phenylacetate:phenylacetylglutamine ratio with plasma glutamine levels
|
Jiang, Yi
|
|
2017
|
122 |
3 |
p. 39-45
|
artikel
|
| 14 |
Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia
|
Farah, Benjamin L.
|
|
2017
|
122 |
3 |
p. 95-98
|
artikel
|
| 15 |
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2years
|
Berry, Susan A.
|
|
2017
|
122 |
3 |
p. 46-53
|
artikel
|
| 16 |
Severe neuroimaging anomalies are usually associated with random X inactivation in leucocytes circulating DNA in X-linked dominant Incontinentia Pigmenti
|
Dangouloff-Ros, Volodia
|
|
2017
|
122 |
3 |
p. 140-144
|
artikel
|
| 17 |
Table of Contents
|
|
|
2017
|
122 |
3 |
p. iii-iv
|
artikel
|
| 18 |
Therapies for mitochondrial diseases and current clinical trials
|
El-Hattab, Ayman W.
|
|
2017
|
122 |
3 |
p. 1-9
|
artikel
|
| 19 |
The role of epigenetics in lysosomal storage disorders: Uncharted territory
|
Hassan, Shahzeb
|
|
2017
|
122 |
3 |
p. 10-18
|
artikel
|
| 20 |
Three mitochondrial transporters of Saccharomyces cerevisiae are essential for ammonium fixation and lysine biosynthesis in synthetic minimal medium
|
Scarcia, P.
|
|
2017
|
122 |
3 |
p. 54-60
|
artikel
|
| 21 |
X-linked adrenoleukodystrophy in a chimpanzee due to an ABCD1 mutation reported in multiple unrelated humans
|
Curiel, Julian
|
|
2017
|
122 |
3 |
p. 130-133
|
artikel
|
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