| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Arrhythmia as a cardiac manifestation in MELAS syndrome
|
Thomas, Tamara
|
|
2015
|
4 |
C |
p. 9-10
2 p.
|
artikel
|
| 2 |
Catel–Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS
|
Pferdehirt, Rachel
|
|
2015
|
4 |
C |
p. 89-91
3 p.
|
artikel
|
| 3 |
Characterization of a rare Unverricht–Lundborg disease mutation
|
Duarte, Ana Joana
|
|
2015
|
4 |
C |
p. 68-71
4 p.
|
artikel
|
| 4 |
Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis
|
Mori, Mari
|
|
2015
|
4 |
C |
p. 39-41
3 p.
|
artikel
|
| 5 |
Delivery of the 7-dehydrocholesterol reductase gene to the central nervous system using adeno-associated virus vector in a mouse model of Smith-Lemli-Opitz Syndrome
|
Pasta, Saloni
|
|
2015
|
4 |
C |
p. 92-98
7 p.
|
artikel
|
| 6 |
Executive function in adolescents with PKU and their siblings: Associations with biochemistry
|
Sharman, R.
|
|
2015
|
4 |
C |
p. 87-88
2 p.
|
artikel
|
| 7 |
Gestational diabetes associated with a novel mutation (378–379insTT) in the glycerol kinase gene
|
Zhang, Yao H.
|
|
2015
|
4 |
C |
p. 42-45
4 p.
|
artikel
|
| 8 |
Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease
|
Atwal, P.S.
|
|
2015
|
4 |
C |
p. 46-48
3 p.
|
artikel
|
| 9 |
Hereditary fructose intolerance in Brazilian patients
|
Valadares, Eugênia Ribeiro
|
|
2015
|
4 |
C |
p. 35-38
4 p.
|
artikel
|
| 10 |
Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers
|
Stenger, Elizabeth O.
|
|
2015
|
4 |
C |
p. 30-34
5 p.
|
artikel
|
| 11 |
Increased apoptosis and hypomyelination in cerebral white matter of macular mutant mouse brain
|
Takikita, Shoichi
|
|
2015
|
4 |
C |
p. 25-29
5 p.
|
artikel
|
| 12 |
Late onset variants in Fabry disease: Results in high risk population screenings in Argentina
|
Serebrinsky, G.
|
|
2015
|
4 |
C |
p. 19-24
6 p.
|
artikel
|
| 13 |
Mechanism by which nuclear factor-kappa beta (NF-kB) regulates ovine fetal pulmonary vascular smooth muscle cell proliferation
|
Ogbozor, Uchenna D.
|
|
2015
|
4 |
C |
p. 11-18
8 p.
|
artikel
|
| 14 |
Mutations in ARSB in MPS VI patients in India
|
Mathew, Juby
|
|
2015
|
4 |
C |
p. 53-61
9 p.
|
artikel
|
| 15 |
Neuraminidase-1 contributes significantly to the degradation of neuronal B-series gangliosides but not to the bypass of the catabolic block in Tay–Sachs mouse models
|
Timur, Z.K.
|
|
2015
|
4 |
C |
p. 72-82
11 p.
|
artikel
|
| 16 |
Oxidative stress parameters of Gaucher disease type I patients
|
Mello, Alexandre Silva
|
|
2015
|
4 |
C |
p. 1-5
5 p.
|
artikel
|
| 17 |
Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2
|
Szymańska, Edyta
|
|
2015
|
4 |
C |
p. 83-86
4 p.
|
artikel
|
| 18 |
Refeeding syndrome in a young woman with argininosuccinate lyase deficiency
|
Stuy, M.
|
|
2015
|
4 |
C |
p. 6-8
3 p.
|
artikel
|
| 19 |
The challenge of long-term tetrahydrobiopterin (BH4) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply
|
Thiele, Alena G.
|
|
2015
|
4 |
C |
p. 62-67
6 p.
|
artikel
|
| 20 |
Two consecutive partial liver transplants in a patient with Classic Maple Syrup Urine Disease
|
Chin, H.L.
|
|
2015
|
4 |
C |
p. 49-52
4 p.
|
artikel
|
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