| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A novel double GLA gene mutation of W24R and N419D in a patient with cardiac Fabry disease
|
Hirose, Masanori
|
|
|
36 |
C |
p.
|
artikel
|
| 2 |
Bone marrow adipocytes alteration in an in vitro model of Gaucher Disease
|
Crivaro, A.
|
|
|
36 |
C |
p.
|
artikel
|
| 3 |
Burden of caregivers of patients with neuronopathic and non-neuronopathic Gaucher disease in Japan: A survey-based study
|
Koto, Yuta
|
|
|
36 |
C |
p.
|
artikel
|
| 4 |
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review
|
Štajer, Katarina
|
|
|
36 |
C |
p.
|
artikel
|
| 5 |
Clinical, biochemical and molecular characterization of Wilson's disease in Moroccan patients
|
Lafhal, Karima
|
|
|
36 |
C |
p.
|
artikel
|
| 6 |
Clinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy
|
McFadden, Jason R.
|
|
|
36 |
C |
p.
|
artikel
|
| 7 |
Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease
|
Nakamura, Katsuya
|
|
|
36 |
C |
p.
|
artikel
|
| 8 |
Creatine energy substrate increases bone density in the Pahenu2 classical PKU mouse in the context of phenylalanine restriction
|
Dobrowolski, Steven F.
|
|
|
36 |
C |
p.
|
artikel
|
| 9 |
Dental complications in homocystinurias
|
Chapman, Kimberly A.
|
|
|
36 |
C |
p.
|
artikel
|
| 10 |
Development of high sustained anti-drug antibody titers and corresponding clinical decline in a late-onset Pompe disease patient after 11+ years on enzyme replacement therapy
|
Kim, Katherine H.
|
|
|
36 |
C |
p.
|
artikel
|
| 11 |
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing
|
Malekkou, Anna
|
|
|
36 |
C |
p.
|
artikel
|
| 12 |
Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
|
Bozaci, Ayse Ergül
|
|
|
36 |
C |
p.
|
artikel
|
| 13 |
Growth patterns in patients with mucopolysaccharidosis VII
|
Montaño, Adriana M.
|
|
|
36 |
C |
p.
|
artikel
|
| 14 |
Long-term administration of intravenous Trappsol® Cyclo™ (HP-β-CD) results in clinical benefits and stabilization or slowing of disease progression in patients with Niemann-Pick disease type C1: Results of an international 48-week Phase I/II trial
|
Sharma, Reena
|
|
|
36 |
C |
p.
|
artikel
|
| 15 |
Long-term experience with idursulfase beta (Hunterase) in two adolescent patients with MPS II: A case series
|
Chan, Mei-Yan
|
|
|
36 |
C |
p.
|
artikel
|
| 16 |
Low bone mineralization in phenylketonuria may be due to undiagnosed metabolic acidosis
|
Rovelli, Valentina
|
|
|
36 |
C |
p.
|
artikel
|
| 17 |
Muscle ultrasound in patients with late-onset Pompe disease identified by newborn screening
|
Jackson, David G.
|
|
|
36 |
C |
p.
|
artikel
|
| 18 |
Neurocognitive testing in a murine model of mucopolysaccharidosis type IIIA
|
Pericleous, Kleopatra
|
|
|
36 |
C |
p.
|
artikel
|
| 19 |
Professional activity, gender and disease-related emotions: The impact on parents' experiences in caring for children with phenylketonuria
|
Walkowiak, Dariusz
|
|
|
36 |
C |
p.
|
artikel
|
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