| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Acadl-SNP based genotyping assay for long-chain acyl-CoA dehydrogenase deficient mice
|
Luther, Rita J.
|
|
2012
|
106 |
1 |
p. 62-67
6 p.
|
artikel
|
| 2 |
Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases
|
Cazzorla, Chiara
|
|
2012
|
106 |
1 |
p. 25-30
6 p.
|
artikel
|
| 3 |
Barth syndrome in a female patient
|
Cosson, Laure
|
|
2012
|
106 |
1 |
p. 115-120
6 p.
|
artikel
|
| 4 |
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California
|
Gallant, Natalie M.
|
|
2012
|
106 |
1 |
p. 55-61
7 p.
|
artikel
|
| 5 |
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness
|
Osaka, Hitoshi
|
|
2012
|
106 |
1 |
p. 43-47
5 p.
|
artikel
|
| 6 |
Developmental progress and creatine restoration upon long-term creatine supplementation of a patient with arginine:glycine amidinotransferase deficiency
|
Ndika, Joseph D.T.
|
|
2012
|
106 |
1 |
p. 48-54
7 p.
|
artikel
|
| 7 |
Editorial Board
|
|
|
2012
|
106 |
1 |
p. IFC-
1 p.
|
artikel
|
| 8 |
Effect of curcumin in a mouse model of Pelizaeus–Merzbacher disease
|
Yu, Li-Hua
|
|
2012
|
106 |
1 |
p. 108-114
7 p.
|
artikel
|
| 9 |
Emphysema in an adult with galactosialidosis linked to a defect in primary elastic fiber assembly
|
Lehman, Anna
|
|
2012
|
106 |
1 |
p. 99-103
5 p.
|
artikel
|
| 10 |
Enzyme replacement therapy partially prevents invariant Natural Killer T cell deficiency in the Fabry disease mouse model
|
Macedo, Maria Fatima
|
|
2012
|
106 |
1 |
p. 83-91
9 p.
|
artikel
|
| 11 |
Expert recommendations for the laboratory diagnosis of MPS VI
|
Wood, T.
|
|
2012
|
106 |
1 |
p. 73-82
10 p.
|
artikel
|
| 12 |
Galactosemia: When is it a newborn screening emergency?
|
Berry, Gerard T.
|
|
2012
|
106 |
1 |
p. 7-11
5 p.
|
artikel
|
| 13 |
High prevalence of leptin and melanocortin-4 receptor gene mutations in children with severe obesity from Pakistani consanguineous families
|
Saeed, Sadia
|
|
2012
|
106 |
1 |
p. 121-126
6 p.
|
artikel
|
| 14 |
Human 8-oxoguanine-DNA glycosylase-1 is downregulated in human basal cell carcinoma
|
Huang, Xiao Xuan
|
|
2012
|
106 |
1 |
p. 127-130
4 p.
|
artikel
|
| 15 |
Immunoreactive trypsinogen (IRT) as a biomarker for cystic fibrosis: Challenges in newborn dried blood spot screening
|
Therrell Jr., Bradford L.
|
|
2012
|
106 |
1 |
p. 1-6
6 p.
|
artikel
|
| 16 |
Induction of oxidative stress in brain of glutaryl-CoA dehydrogenase deficient mice by acute lysine administration
|
Seminotti, Bianca
|
|
2012
|
106 |
1 |
p. 31-38
8 p.
|
artikel
|
| 17 |
Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder
|
Ogier de Baulny, Hélène
|
|
2012
|
106 |
1 |
p. 12-17
6 p.
|
artikel
|
| 18 |
Lysosomal enzyme can bypass the blood–brain barrier and reach the CNS following intranasal administration
|
Wolf, Daniel A.
|
|
2012
|
106 |
1 |
p. 131-134
4 p.
|
artikel
|
| 19 |
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies
|
Fletcher, Autumn L.
|
|
2012
|
106 |
1 |
p. 18-24
7 p.
|
artikel
|
| 20 |
Pearson syndrome: Unique endocrine manifestations including Neonatal Diabetes and adrenal insufficiency
|
Williams, T.B.
|
|
2012
|
106 |
1 |
p. 104-107
4 p.
|
artikel
|
| 21 |
Peptide tyrosine tyrosine levels are increased in patients with urea cycle disorders
|
Mitchell, Sabrina
|
|
2012
|
106 |
1 |
p. 39-42
4 p.
|
artikel
|
| 22 |
Specific antibody titer alters the effectiveness of intrathecal enzyme replacement therapy in canine mucopolysaccharidosis I
|
Dickson, Patricia I.
|
|
2012
|
106 |
1 |
p. 68-72
5 p.
|
artikel
|
| 23 |
Table of Contents
|
|
|
2012
|
106 |
1 |
p. iii-iv
nvt p.
|
artikel
|
| 24 |
Therapeutic chaperone effect of N-Octyl 4-Epi-β-valienamine on murine GM1-gangliosidosis
|
Suzuki, Yoshiyuki
|
|
2012
|
106 |
1 |
p. 92-98
7 p.
|
artikel
|
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