| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ABCC6 does not transport adenosine — Relevance to pathomechanism of pseudoxanthoma elasticum
|
Szabó, Zalán
|
|
2011
|
104 |
3 |
p. 421-
1 p.
|
artikel
|
| 2 |
A large TAT deletion in a tyrosinaemia type II patient
|
Legarda, Maria
|
|
2011
|
104 |
3 |
p. 407-409
3 p.
|
artikel
|
| 3 |
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith–Lemli–Opitz syndrome
|
Ren, Gongyi
|
|
2011
|
104 |
3 |
p. 346-355
10 p.
|
artikel
|
| 4 |
A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID)
|
Chan, Kee
|
|
2011
|
104 |
3 |
p. 383-389
7 p.
|
artikel
|
| 5 |
A novel mucopolysaccharidosis type I associated splice site mutation and IDUA splice variants
|
Bremer, Sara
|
|
2011
|
104 |
3 |
p. 289-294
6 p.
|
artikel
|
| 6 |
Asymmetric uptake of sepiapterin and 7,8-dihydrobiopterin as a gateway of the salvage pathway of tetrahydrobiopterin biosynthesis from the lumenal surface of rat endothelial cells
|
Ohashi, Akiko
|
|
2011
|
104 |
3 |
p. 404-406
3 p.
|
artikel
|
| 7 |
Bezafibrate upregulates carnitine palmitoyltransferase II expression and promotes mitochondrial energy crisis dissipation in fibroblasts of patients with influenza-associated encephalopathy
|
Yao, Min
|
|
2011
|
104 |
3 |
p. 265-272
8 p.
|
artikel
|
| 8 |
Cerebral folate deficiency: A neurometabolic syndrome?
|
Mangold, Sarah
|
|
2011
|
104 |
3 |
p. 369-372
4 p.
|
artikel
|
| 9 |
Corrigendum to “A complex rearrangement in GBE1 causes both perinatal hypoglycemic collapse and late-juvenile-onset neuromuscular degeneration in glycogen storage disease type IV of Norwegian forest cats” [Mol. Genet. Metab. 90 (2007) 383–392]
|
Fyfe, John C.
|
|
2011
|
104 |
3 |
p. 423-
1 p.
|
artikel
|
| 10 |
Cystatin C and NT-proBNP as prognostic biomarkers in Fabry disease
|
Torralba-Cabeza, Miguel-Ángel
|
|
2011
|
104 |
3 |
p. 301-307
7 p.
|
artikel
|
| 11 |
Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD
|
Westermann, C.M.
|
|
2011
|
104 |
3 |
p. 273-278
6 p.
|
artikel
|
| 12 |
Deficient degradation of homotrimeric type I collagen, α1(I)3 glomerulopathy in oim mice
|
Roberts-Pilgrim, Anna M.
|
|
2011
|
104 |
3 |
p. 373-382
10 p.
|
artikel
|
| 13 |
Diagnostic dilemma: A young woman with Fabry disease symptoms, no family history, and a “sequencing cryptic” α-galactosidase a large deletion
|
Feldt-Rasmussen, Ulla
|
|
2011
|
104 |
3 |
p. 314-318
5 p.
|
artikel
|
| 14 |
Editorial Board
|
|
|
2011
|
104 |
3 |
p. IFC-
1 p.
|
artikel
|
| 15 |
Effect of aerobic and resistance exercise training on late-onset Pompe disease patients receiving enzyme replacement therapy
|
Terzis, Gerasimos
|
|
2011
|
104 |
3 |
p. 279-283
5 p.
|
artikel
|
| 16 |
Erratum to “Pompe disease: Design, methodology, and early findings from the Pompe Registry” [Mol. Genet. Metabol. 103 (2011) 1–11]
|
Byrne, Barry J.
|
|
2011
|
104 |
3 |
p. 424-
1 p.
|
artikel
|
| 17 |
Evaluation of orally administered PEGylated phenylalanine ammonia lyase in mice for the treatment of Phenylketonuria
|
Sarkissian, Christineh N.
|
|
2011
|
104 |
3 |
p. 249-254
6 p.
|
artikel
|
| 18 |
Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU)
|
Hamman, Kelly J.
|
|
2011
|
104 |
3 |
p. 235-240
6 p.
|
artikel
|
| 19 |
Higher apoptotic state in Fabry disease peripheral blood mononuclear cells.
|
De Francesco, Pablo N.
|
|
2011
|
104 |
3 |
p. 319-324
6 p.
|
artikel
|
| 20 |
Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life
|
Bouwman, Machtelt G.
|
|
2011
|
104 |
3 |
p. 308-313
6 p.
|
artikel
|
| 21 |
Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant
|
Gillingham, Melanie B.
|
|
2011
|
104 |
3 |
p. 261-264
4 p.
|
artikel
|
| 22 |
Increased inspiratory and expiratory muscle strength following respiratory muscle strength training (RMST) in two patients with late-onset Pompe disease
|
Jones, Harrison N.
|
|
2011
|
104 |
3 |
p. 417-420
4 p.
|
artikel
|
| 23 |
Increased superoxide accumulation in pyruvate dehydrogenase complex deficient fibroblasts
|
Glushakova, Lyudmyla G.
|
|
2011
|
104 |
3 |
p. 255-260
6 p.
|
artikel
|
| 24 |
Intrathecal tripeptidyl-peptidase 1 reduces lysosomal storage in a canine model of late infantile neuronal ceroid lipofuscinosis
|
Vuillemenot, Brian R.
|
|
2011
|
104 |
3 |
p. 325-337
13 p.
|
artikel
|
| 25 |
Inverse zonation of hepatocyte transduction with AAV vectors between mice and non-human primates
|
Bell, Peter
|
|
2011
|
104 |
3 |
p. 395-403
9 p.
|
artikel
|
| 26 |
Large contiguous gene deletions in Sjögren–Larsson syndrome
|
Engelstad, Holly
|
|
2011
|
104 |
3 |
p. 356-361
6 p.
|
artikel
|
| 27 |
Mechanisms regulating superoxide generation in experimental models of phenylketonuria: An essential role of NADPH oxidase
|
Lu, Lihua
|
|
2011
|
104 |
3 |
p. 241-248
8 p.
|
artikel
|
| 28 |
Metabolic and monogenic causes of seizures in neonates and young infants
|
Van Hove, Johan L.K.
|
|
2011
|
104 |
3 |
p. 214-230
17 p.
|
artikel
|
| 29 |
Mucolipidosis type IV: An update
|
Wakabayashi, Kazuyo
|
|
2011
|
104 |
3 |
p. 206-213
8 p.
|
artikel
|
| 30 |
Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death
|
Yahyaoui, Raquel
|
|
2011
|
104 |
3 |
p. 414-416
3 p.
|
artikel
|
| 31 |
New frontiers in neuroimaging applications to inborn errors of metabolism
|
Prust, Morgan J.
|
|
2011
|
104 |
3 |
p. 195-205
11 p.
|
artikel
|
| 32 |
Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion
|
Mercimek-Mahmutoglu, Saadet
|
|
2011
|
104 |
3 |
p. 410-413
4 p.
|
artikel
|
| 33 |
PKU: High plasma phenylalanine concentrations are associated with increased prevalence of mood swings
|
Anjema, Karen
|
|
2011
|
104 |
3 |
p. 231-234
4 p.
|
artikel
|
| 34 |
Polymorphic locus rs10492972 of the KIF1B gene association with multiple sclerosis in Russia: Case control study
|
Kudryavtseva, Ekaterina A.
|
|
2011
|
104 |
3 |
p. 390-394
5 p.
|
artikel
|
| 35 |
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)
|
Dill, Patricia
|
|
2011
|
104 |
3 |
p. 362-368
7 p.
|
artikel
|
| 36 |
Rapid progressive course of later-onset Pompe disease in Chinese patients
|
Yang, Chih-Chao
|
|
2011
|
104 |
3 |
p. 284-288
5 p.
|
artikel
|
| 37 |
Response to editor for: ABCC6 does not transport adenosine — Relevance to pathomechanism of pseudoxanthoma elasticum
|
Markello, Thomas C.
|
|
2011
|
104 |
3 |
p. 422-
1 p.
|
artikel
|
| 38 |
Spinal cord compression in young children with type VI mucopolysaccharidosis
|
Horovitz, Dafne Dain Gandelman
|
|
2011
|
104 |
3 |
p. 295-300
6 p.
|
artikel
|
| 39 |
Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients
|
Sarkar, Chinmoy
|
|
2011
|
104 |
3 |
p. 338-345
8 p.
|
artikel
|
| 40 |
Table of Contents
|
|
|
2011
|
104 |
3 |
p. iii-v
nvt p.
|
artikel
|
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