| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Ammonia control in children with urea cycle disorders (UCDs); Phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrate
|
Lichter-Konecki, Uta
|
|
2011
|
103 |
4 |
p. 323-329
7 p.
|
artikel
|
| 2 |
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria
|
Introne, Wendy J.
|
|
2011
|
103 |
4 |
p. 307-314
8 p.
|
artikel
|
| 3 |
Blood phenylalanine clearance and BH4-responsiveness in classic phenylketonuria
|
Bik-Multanowski, Miroslaw
|
|
2011
|
103 |
4 |
p. 399-400
2 p.
|
artikel
|
| 4 |
Clotrimazole disrupts glycolysis in human breast cancer without affecting non-tumoral tissues
|
Coelho, Raquel Guimarães
|
|
2011
|
103 |
4 |
p. 394-398
5 p.
|
artikel
|
| 5 |
CNS-targeted AAV5 gene transfer results in global dispersal of vector and prevention of morphological and function deterioration in CNS of globoid cell leukodystrophy mouse model
|
Lin, Dar-Shong
|
|
2011
|
103 |
4 |
p. 367-377
11 p.
|
artikel
|
| 6 |
Comprehensive cDNA study and quantitative analysis of mutant HADHA and HADHB transcripts in a French cohort of 52 patients with mitochondrial trifunctional protein deficiency
|
Boutron, A.
|
|
2011
|
103 |
4 |
p. 341-348
8 p.
|
artikel
|
| 7 |
Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria
|
Keating, Amy K.
|
|
2011
|
103 |
4 |
p. 330-337
8 p.
|
artikel
|
| 8 |
Contents
|
|
|
2011
|
103 |
4 |
p. iii-iv
nvt p.
|
artikel
|
| 9 |
Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations
|
Schaaf, Christian P.
|
|
2011
|
103 |
4 |
p. 383-387
5 p.
|
artikel
|
| 10 |
Editorial Board
|
|
|
2011
|
103 |
4 |
p. IFC-
1 p.
|
artikel
|
| 11 |
Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis
|
Wang, Guo-li
|
|
2011
|
103 |
4 |
p. 349-357
9 p.
|
artikel
|
| 12 |
Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered
|
El-Gharbawy, Areeg H.
|
|
2011
|
103 |
4 |
p. 362-366
5 p.
|
artikel
|
| 13 |
Expression of Mmachc and Mmadhc during mouse organogenesis
|
Pupavac, Mihaela
|
|
2011
|
103 |
4 |
p. 401-405
5 p.
|
artikel
|
| 14 |
Glucocerebrosidase mutations do not cause increased Lewy body pathology in Parkinson's disease
|
Parkkinen, Laura
|
|
2011
|
103 |
4 |
p. 410-412
3 p.
|
artikel
|
| 15 |
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency
|
Mayr, Johannes A.
|
|
2011
|
103 |
4 |
p. 358-361
4 p.
|
artikel
|
| 16 |
Influence of follicle-stimulating hormone receptor (FSHR) Ser680Asn polymorphism on ovarian function and in-vitro fertilization outcome: A meta-analysis
|
Yao, Yao
|
|
2011
|
103 |
4 |
p. 388-393
6 p.
|
artikel
|
| 17 |
Not all cystic leukoencephalopathies are “vanishing white matter”
|
van der Knaap, Marjo S.
|
|
2011
|
103 |
4 |
p. 413-
1 p.
|
artikel
|
| 18 |
Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: Results of a phase 3b study
|
Burton, Barbara K.
|
|
2011
|
103 |
4 |
p. 315-322
8 p.
|
artikel
|
| 19 |
Significant association of serum uric acid levels with SLC2A9 rs11722228 among a Japanese population
|
Hamajima, Nobuyuki
|
|
2011
|
103 |
4 |
p. 378-382
5 p.
|
artikel
|
| 20 |
Time-dependent changes in the plasma amino acid concentration in diabetes mellitus
|
Mochida, Taiga
|
|
2011
|
103 |
4 |
p. 406-409
4 p.
|
artikel
|
| 21 |
Toward extension of intellectual property to medical expressions?
|
Landrieu, Pierre
|
|
2011
|
103 |
4 |
p. 414-
1 p.
|
artikel
|
| 22 |
45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?
|
Lam, Christina
|
|
2011
|
103 |
4 |
p. 338-340
3 p.
|
artikel
|
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