| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adult Polyglucosan Body Disease (APBD): Anaplerotic diet therapy (Triheptanoin) and demonstration of defective methylation pathways
|
Roe, Charles R.
|
|
2010
|
|
2-3 |
p. 246-252
7 p.
|
artikel
|
| 2 |
Age adjusting severity scores for Anderson–Fabry Disease
|
Hughes, D.A.
|
|
2010
|
|
2-3 |
p. 219-227
9 p.
|
artikel
|
| 3 |
A Japanese child with asymptomatic elevation of serum creatine kinase shows PTRF-CAVIN mutation matching with congenital generalized lipodystrophy type 4
|
Dwianingsih, Ery Kus
|
|
2010
|
|
2-3 |
p. 233-237
5 p.
|
artikel
|
| 4 |
Altered DNA methylation in PAH deficient phenylketonuria
|
Dobrowolski, Steven F.
|
|
2015
|
|
2-3 |
p. 72-77
6 p.
|
artikel
|
| 5 |
Amyloid Aß , cut from APP by ß-secretase BACE1 and γ-secretase, induces apoptosis via opening type-1 porin/VDAC in cell membranes of hypometabolic cells—A basic model for the induction of apoptosis!?
|
Thinnes, Friedrich P.
|
|
2010
|
|
2-3 |
p. 301-303
3 p.
|
artikel
|
| 6 |
An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1α
|
Ojano-Dirain, Carolyn
|
|
2010
|
|
2-3 |
p. 183-191
9 p.
|
artikel
|
| 7 |
A novel explanation for potential toxic effects of valproic acid on creatine: Implications for autism
|
Ghanizadeh, Ahmad
|
|
2010
|
|
2-3 |
p. 304-
1 p.
|
artikel
|
| 8 |
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment
|
Maclean, Kenneth N.
|
|
2010
|
|
2-3 |
p. 153-162
10 p.
|
artikel
|
| 9 |
A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia
|
Deutsch, Eric C.
|
|
2010
|
|
2-3 |
p. 238-245
8 p.
|
artikel
|
| 10 |
Aromatic l-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma
|
Atwal, Paldeep S.
|
|
2015
|
|
2-3 |
p. 91-94
4 p.
|
artikel
|
| 11 |
Breast milk and gene delivery: Is lysinuric protein intolerance an exemplar?
|
Boyd, C.A.R.
|
|
2010
|
|
2-3 |
p. 296-
1 p.
|
artikel
|
| 12 |
Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut
|
Collins, Sorcha A.
|
|
2010
|
|
2-3 |
p. 200-204
5 p.
|
artikel
|
| 13 |
Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment
|
Maclean, Kenneth N.
|
|
2010
|
|
2-3 |
p. 163-171
9 p.
|
artikel
|
| 14 |
Discordant expression of miR-103/7 and pantothenate kinase host genes in mouse
|
Polster, Brenda J.
|
|
2010
|
|
2-3 |
p. 292-295
4 p.
|
artikel
|
| 15 |
Early versus late treatment of spinal cord compression with long-term intrathecal enzyme replacement therapy in canine mucopolysaccharidosis type I
|
Dickson, Patricia I.
|
|
2010
|
|
2-3 |
p. 115-122
8 p.
|
artikel
|
| 16 |
Editorial Board
|
|
|
2015
|
|
2-3 |
p. IFC-
1 p.
|
artikel
|
| 17 |
Editorial Board
|
|
|
2010
|
|
2-3 |
p. IFC-
1 p.
|
artikel
|
| 18 |
Enzymatic activity of methionine adenosyltransferase variants identified in patients with persistent hypermethioninemia
|
Fernández-Irigoyen, Joaquín
|
|
2010
|
|
2-3 |
p. 172-177
6 p.
|
artikel
|
| 19 |
Equine acquired multiple acyl-CoA dehydrogenase deficiency (MADD) in 14 horses associated with ingestion of Maple leaves (Acer pseudoplatanus) covered with European tar spot (Rhytisma acerinum)
|
van der Kolk, J.H.
|
|
2010
|
|
2-3 |
p. 289-291
3 p.
|
artikel
|
| 20 |
ESI-MS/MS measurement of free carnitine and its precursor γ-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders
|
Primassin, Sonja
|
|
2010
|
|
2-3 |
p. 141-145
5 p.
|
artikel
|
| 21 |
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
|
Lam, Christina
|
|
2015
|
|
2-3 |
p. 128-140
13 p.
|
artikel
|
| 22 |
Glutaric aciduria type 1 in South Africa—high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans
|
van der Watt, George
|
|
2010
|
|
2-3 |
p. 178-182
5 p.
|
artikel
|
| 23 |
Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5
|
Gilliam, D.
|
|
2015
|
|
2-3 |
p. 101-109
9 p.
|
artikel
|
| 24 |
Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II — data from the Hunter Outcome Survey
|
Burton, Barbara K.
|
|
2010
|
|
2-3 |
p. 123-129
7 p.
|
artikel
|
| 25 |
Increase in HDL-C concentration by a dietary portfolio with soy protein and soluble fiber is associated with the presence of the ABCA1R230C variant in hyperlipidemic Mexican subjects
|
Guevara-Cruz, Martha
|
|
2010
|
|
2-3 |
p. 268-272
5 p.
|
artikel
|
| 26 |
Iron metabolism in macrophages from HFE hemochromatosis patients
|
Jacolot, Sandrine
|
|
2010
|
|
2-3 |
p. 258-267
10 p.
|
artikel
|
| 27 |
l-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation
|
Edvardson, Simon
|
|
2010
|
|
2-3 |
p. 228-232
5 p.
|
artikel
|
| 28 |
Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit
|
Pagniez-Mammeri, Hélène
|
|
2010
|
|
2-3 |
p. 297-298
2 p.
|
artikel
|
| 29 |
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70
|
Shchelochkov, Oleg A.
|
|
2010
|
|
2-3 |
p. 282-285
4 p.
|
artikel
|
| 30 |
Minimally invasive 13C-breath test to examine phenylalanine metabolism in children with phenylketonuria
|
Turki, Abrar
|
|
2015
|
|
2-3 |
p. 78-83
6 p.
|
artikel
|
| 31 |
Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation
|
Zhang, Minglian
|
|
2010
|
|
2-3 |
p. 192-199
8 p.
|
artikel
|
| 32 |
Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: Implications for the diagnosis and follow-up of serine biosynthesis disorders
|
Moat, Stuart
|
|
2010
|
|
2-3 |
p. 149-152
4 p.
|
artikel
|
| 33 |
Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study
|
Nardecchia, Francesca
|
|
2015
|
|
2-3 |
p. 84-90
7 p.
|
artikel
|
| 34 |
Newborn screening in Spain, with particular reference to Galicia: Echoes of Louis I. Woolf
|
Alonso-Fernández, J.R.
|
|
2010
|
|
2-3 |
p. 95-98
4 p.
|
artikel
|
| 35 |
Next generation sequencing in endocrine practice
|
Forlenza, Gregory P.
|
|
2015
|
|
2-3 |
p. 61-71
11 p.
|
artikel
|
| 36 |
[No title]
|
Vladutiu, Georgirene D.
|
|
2010
|
|
2-3 |
p. 93-94
2 p.
|
artikel
|
| 37 |
Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings
|
Missaglia, Sara
|
|
2015
|
|
2-3 |
p. 110-117
8 p.
|
artikel
|
| 38 |
Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP
|
Žídková, L.
|
|
2010
|
|
2-3 |
p. 286-288
3 p.
|
artikel
|
| 39 |
Opening cell membrane-standing type-1 VDAC/porin channels by trivalent aluminium—a factor in amyotrophic lateral sclerosis and Alzheimer's disease?
|
Thinnes, Friedrich P.
|
|
2010
|
|
2-3 |
p. 299-300
2 p.
|
artikel
|
| 40 |
Outcome in six patients with mitochondrial trifunctional protein disorders identified by newborn screening
|
Sperk, Astrid
|
|
2010
|
|
2-3 |
p. 205-207
3 p.
|
artikel
|
| 41 |
Oxidative stress in Niemann–Pick disease, type C
|
Fu, Rao
|
|
2010
|
|
2-3 |
p. 214-218
5 p.
|
artikel
|
| 42 |
Pathway analysis software: Annotation errors and solutions
|
Henderson-MacLennan, Nicole K.
|
|
2010
|
|
2-3 |
p. 134-140
7 p.
|
artikel
|
| 43 |
Phenylalanine hydroxylase expression in primary rat hepatocytes is modulated by oxygen concentration
|
Ying, Ming
|
|
2010
|
|
2-3 |
p. 279-281
3 p.
|
artikel
|
| 44 |
Pompe disease: Dramatic improvement in gastrointestinal function following enzyme replacement therapy. A report of three later-onset patients
|
Bernstein, Donna L.
|
|
2010
|
|
2-3 |
p. 130-133
4 p.
|
artikel
|
| 45 |
Reaching out to the lost generation of adults with early-treated phenylketonuria (PKU)
|
Burton, Barbara K.
|
|
2010
|
|
2-3 |
p. 146-148
3 p.
|
artikel
|
| 46 |
Sapropterin therapy increases stability of blood phenylalanine levels in patients with BH4-responsive phenylketonuria (PKU)
|
Burton, Barbara K.
|
|
2010
|
|
2-3 |
p. 110-114
5 p.
|
artikel
|
| 47 |
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
|
Léticée, Nadia
|
|
2010
|
|
2-3 |
p. 253-257
5 p.
|
artikel
|
| 48 |
Simple and inexpensive quantification of ammonia in whole blood
|
Ayyub, Omar B.
|
|
2015
|
|
2-3 |
p. 95-100
6 p.
|
artikel
|
| 49 |
Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence
|
Enns, G.M.
|
|
2010
|
|
2-3 |
p. 99-109
11 p.
|
artikel
|
| 50 |
Table of Contents
|
|
|
2010
|
|
2-3 |
p. iii-v
nvt p.
|
artikel
|
| 51 |
Table of Contents
|
|
|
2015
|
|
2-3 |
p. iii-
1 p.
|
artikel
|
| 52 |
Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA
|
Roberts, Ainslie L.K.
|
|
2010
|
|
2-3 |
p. 208-213
6 p.
|
artikel
|
| 53 |
Various lamin A/C mutations alter expression profile of mesenchymal stem cells in mutation specific manner
|
Malashicheva, Anna
|
|
2015
|
|
2-3 |
p. 118-127
10 p.
|
artikel
|
| 54 |
Weight gain induced by an isocaloric pair-fed high fat diet: A nutriepigenetic study on FASN and NDUFB6 gene promoters
|
Lomba, Almudena
|
|
2010
|
|
2-3 |
p. 273-278
6 p.
|
artikel
|
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