| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A Letter from Brian Berman, President, National Gaucher Foundation
|
|
|
2019
|
18 |
C |
p. 45-46
|
artikel
|
| 2 |
Allogeneic stem cell transplantation with reduced intensity conditioning for patients with adrenoleukodystrophy
|
Kato, Koji
|
|
2019
|
18 |
C |
p. 1-6
|
artikel
|
| 3 |
Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe?
|
Paskulin, Livia
|
|
2019
|
18 |
C |
p. 30-31
|
artikel
|
| 4 |
Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency
|
Apatean, Delia
|
|
2019
|
18 |
C |
p. 32-38
|
artikel
|
| 5 |
Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C > T
|
Finsterer, Josef
|
|
2019
|
18 |
C |
p. 7
|
artikel
|
| 6 |
NDUFAF5 variants manifest phenotypically heterogeneously
|
Finsterer, Josef
|
|
2019
|
18 |
C |
p. 8-9
|
artikel
|
| 7 |
Response to “Leigh-like syndrome with mild mtDNA depletion due to the SUCLG1 variant c.626C>A”
|
Chinopoulos, Christos
|
|
2019
|
18 |
C |
p. 10
|
artikel
|
| 8 |
Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B
|
Hannah-Shmouni, Fady
|
|
2019
|
18 |
C |
p. 11-13
|
artikel
|
| 9 |
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia
|
Al-Hamed, Mohamed H.
|
|
2019
|
18 |
C |
p. 22-29
|
artikel
|
| 10 |
Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening
|
Hannah-Shmouni, Fady
|
|
2019
|
18 |
C |
p. 19-21
|
artikel
|
| 11 |
Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1
|
Glinton, Kevin E.
|
|
2019
|
18 |
C |
p. 14-18
|
artikel
|
| 12 |
Weaning practices in phenylketonuria vary between health professionals in Europe
|
Pinto, A.
|
|
2019
|
18 |
C |
p. 39-44
|
artikel
|
| 13 |
Withdrawn Article
|
Torres, Alcy
|
|
2019
|
18 |
C |
p. 47
|
artikel
|
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