| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
|
Fukuhara, Yasuyuki
|
|
2018
|
14 |
C |
p. 3-9
|
artikel
|
| 2 |
Blood phenylalanine instability strongly correlates with anxiety in phenylketonuria
|
Didycz, Bozena
|
|
2018
|
14 |
C |
p. 80-82
|
artikel
|
| 3 |
Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey
|
Schwartz, Ida Vanessa D.
|
|
2018
|
14 |
C |
p. 73-79
|
artikel
|
| 4 |
Enzyme replacement therapy in perinatal hypophosphatasia: Case report of a negative outcome and lessons for clinical practice
|
Costain, Gregory
|
|
2018
|
14 |
C |
p. 22-26
|
artikel
|
| 5 |
Fibroblast growth-factor-21 is currently a weak biomarker for identifying mitochondrial and non-mitochondrial inborn errors of metabolism
|
Finsterer, Josef
|
|
2018
|
14 |
C |
p. 1-2
|
artikel
|
| 6 |
Home infusion with Elosulfase alpha (VimizimR) in a UK Paediatric setting
|
Finnigan, Niamh
|
|
2018
|
14 |
C |
p. 15-18
|
artikel
|
| 7 |
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization
|
Voskoboeva, Elena
|
|
2018
|
14 |
C |
p. 47-54
|
artikel
|
| 8 |
Long-term outcomes with agalsidase alfa enzyme replacement therapy: Analysis using deconstructed composite events
|
Beck, Michael
|
|
2018
|
14 |
C |
p. 31-35
|
artikel
|
| 9 |
Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles
|
Yang, Hao
|
|
2018
|
14 |
C |
p. 55-58
|
artikel
|
| 10 |
Motor involvement in Fabry disease
|
Cocozza, Sirio
|
|
2018
|
14 |
C |
p. 43
|
artikel
|
| 11 |
Natural history of Morquio A patient with tracheal obstruction from birth to death
|
Doherty, Caitlin
|
|
2018
|
14 |
C |
p. 59-67
|
artikel
|
| 12 |
Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease
|
Finsterer, Josef
|
|
2018
|
14 |
C |
p. 19-21
|
artikel
|
| 13 |
Only some patients with bulbar and spinal muscular atrophy may develop cardiac disease
|
Finsterer, Josef
|
|
2018
|
14 |
C |
p. 44-46
|
artikel
|
| 14 |
Parkinson's disease prevalence in Fabry disease: A survey study
|
Wise, Adina H.
|
|
2018
|
14 |
C |
p. 27-30
|
artikel
|
| 15 |
Phenotypic spectrum of FARS2-deficiency
|
Finsterer, Josef
|
|
2018
|
14 |
C |
p. 41-42
|
artikel
|
| 16 |
Quantification of the enzyme activities of iduronate-2-sulfatase, N-acetylgalactosamine-6-sulfatase and N-acetylgalactosamine-4-sulfatase using liquid chromatography-tandem mass spectrometry
|
Mashima, Ryuichi
|
|
2018
|
14 |
C |
p. 36-40
|
artikel
|
| 17 |
Ten-year-long enzyme replacement therapy shows a poor effect in alleviating giant leg ulcers in a male with Fabry disease
|
Okada, Jun
|
|
2018
|
14 |
C |
p. 68-72
|
artikel
|
| 18 |
The influence of parental food preference and neophobia on children with phenylketonuria (PKU)
|
Evans, Sharon
|
|
2018
|
14 |
C |
p. 10-14
|
artikel
|
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