| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A compound heterozygote case of isolated sulfite oxidase deficiency
|
Brumaru, Daniel
|
|
2017
|
12 |
C |
p. 99-102
|
artikel
|
| 2 |
Adipose stem cells from obese patients show specific differences in the metabolic regulators vitamin D and Gas5
|
Pérez, Laura M.
|
|
2017
|
12 |
C |
p. 51-56
|
artikel
|
| 3 |
A non-mosaic PORCN mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia
|
Madan, Simran
|
|
2017
|
12 |
C |
p. 57-61
|
artikel
|
| 4 |
Application of a diagnostic methodology by quantification of 26:0 lysophosphatidylcholine in dried blood spots for Japanese newborn screening of X-linked adrenoleukodystrophy
|
Wu, Chen
|
|
2017
|
12 |
C |
p. 115-118
|
artikel
|
| 5 |
Case report of treatment experience with idursulfase beta (Hunterase) in an adolescent patient with MPS II
|
Ngu, Lock-Hock
|
|
2017
|
12 |
C |
p. 28-32
|
artikel
|
| 6 |
Combination of Klinefelter syndrome and celiac disease: A case report
|
Baykan, Ahmed Ramiz
|
|
2017
|
12 |
C |
p. 14-15
|
artikel
|
| 7 |
Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs
|
Gelb, Michael H.
|
|
2017
|
12 |
C |
p. 80-81
|
artikel
|
| 8 |
Dietary practices in isovaleric acidemia: A European survey
|
Pinto, A.
|
|
2017
|
12 |
C |
p. 16-22
|
artikel
|
| 9 |
Early hematopoietic stem cell transplantation in a patient with severe mucopolysaccharidosis II: A 7years follow-up
|
Barth, Anneliese L.
|
|
2017
|
12 |
C |
p. 62-68
|
artikel
|
| 10 |
Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles
|
Mashima, Ryuichi
|
|
2017
|
12 |
C |
p. 110-114
|
artikel
|
| 11 |
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients
|
Giugliani, R.
|
|
2017
|
12 |
C |
p. 2-7
|
artikel
|
| 12 |
Higher oxidative stress in skeletal muscle of McArdle disease patients
|
Kaczor, Jan J.
|
|
2017
|
12 |
C |
p. 69-75
|
artikel
|
| 13 |
Home infusion program with enzyme replacement therapy for Fabry disease: The experience of a large Italian collaborative group
|
Concolino, D.
|
|
2017
|
12 |
C |
p. 85-91
|
artikel
|
| 14 |
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil
|
Bravo, Heydy
|
|
2017
|
12 |
C |
p. 92-97
|
artikel
|
| 15 |
Letter to the Editors: Concerning “Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state” by Takashi et al. and Letter to the Editors by Ortolano et al.
|
Schänzer, Anne
|
|
2017
|
12 |
C |
p. 33-34
|
artikel
|
| 16 |
Novel frameshift variant in the IDUA gene underlies Mucopolysaccharidoses type I in a consanguineous Yemeni pedigree
|
Azab, Belal
|
|
2017
|
12 |
C |
p. 76-79
|
artikel
|
| 17 |
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency
|
Sondheimer, Neal
|
|
2017
|
12 |
C |
p. 23-27
|
artikel
|
| 18 |
Phenotypic heterogeneity of a compound heterozygous SUCLA2 mutation
|
Berry, Gerard T.
|
|
2017
|
12 |
C |
p. 1
|
artikel
|
| 19 |
Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria
|
Hawks, Zoë
|
|
2017
|
12 |
C |
p. 8-13
|
artikel
|
| 20 |
Prevalence of chronic kidney disease in fabry disease patients: Multicenter cross sectional study in Argentina
|
Jaurretche, Sebastián
|
|
2017
|
12 |
C |
p. 41-43
|
artikel
|
| 21 |
Psychiatric adult-onset of urea cycle disorders: A case-series
|
Bigot, Adrien
|
|
2017
|
12 |
C |
p. 103-109
|
artikel
|
| 22 |
Response to Gelb et al.: “Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs”
|
Millington, David S.
|
|
2017
|
12 |
C |
p. 98
|
artikel
|
| 23 |
Resveratrol attenuates triglyceride accumulation associated with upregulation of Sirt1 and lipoprotein lipase in 3T3-L1 adipocytes
|
Imamura, Haruki
|
|
2017
|
12 |
C |
p. 44-50
|
artikel
|
| 24 |
The factors affecting lipid profile in adult patients with Mucopolysaccharidosis
|
Stepien, Karolina M.
|
|
2017
|
12 |
C |
p. 35-40
|
artikel
|
| 25 |
Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy
|
Ha, Christine I.
|
|
2017
|
12 |
C |
p. 82-84
|
artikel
|
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