| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abnormal fat distribution in PMM2-CDG
|
Wolthuis, D.F.G.J.
|
|
2013
|
110 |
3 |
p. 411-413
3 p.
|
artikel
|
| 2 |
Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: Clues for the pathogenesis in the human inherited disorder
|
Hernández-Vázquez, A.
|
|
2013
|
110 |
3 |
p. 248-254
7 p.
|
artikel
|
| 3 |
Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening
|
Couce, María L.
|
|
2013
|
110 |
3 |
p. 218-221
4 p.
|
artikel
|
| 4 |
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency
|
Tondo, Mireia
|
|
2013
|
110 |
3 |
p. 231-236
6 p.
|
artikel
|
| 5 |
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
|
Yang, Amy C.
|
|
2013
|
110 |
3 |
p. 345-351
7 p.
|
artikel
|
| 6 |
Creatine and guanidinoacetate reference values in a French population
|
Joncquel-Chevalier Curt, Marie
|
|
2013
|
110 |
3 |
p. 263-267
5 p.
|
artikel
|
| 7 |
Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation
|
Helander, Anders
|
|
2013
|
110 |
3 |
p. 342-344
3 p.
|
artikel
|
| 8 |
DYRK1A overexpression decreases plasma lecithin:cholesterol acyltransferase activity and apolipoprotein A-I levels
|
Tlili, Asma
|
|
2013
|
110 |
3 |
p. 371-377
7 p.
|
artikel
|
| 9 |
Dysregulation of Npas2 leads to altered metabolic pathways in a murine knockout model
|
O'Neil, Derek
|
|
2013
|
110 |
3 |
p. 378-387
10 p.
|
artikel
|
| 10 |
Editorial Board
|
|
|
2013
|
110 |
3 |
p. IFC-
1 p.
|
artikel
|
| 11 |
Efficacy of Miglustat in Niemann–Pick C disease: A single centre experience
|
Ginocchio, Virginia Maria
|
|
2013
|
110 |
3 |
p. 329-335
7 p.
|
artikel
|
| 12 |
Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain
|
Furujo, Mahoko
|
|
2013
|
110 |
3 |
p. 405-410
6 p.
|
artikel
|
| 13 |
Evidence-Based Treatment of Guanidinoacetate Methyltransferase (GAMT) Deficiency
|
Viau, Krista S.
|
|
2013
|
110 |
3 |
p. 255-262
8 p.
|
artikel
|
| 14 |
Genomic structure and genetic drift in C57BL/6 congenic metabolic mutant mice
|
Almodovar, Alvin J.O.
|
|
2013
|
110 |
3 |
p. 396-400
5 p.
|
artikel
|
| 15 |
Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
|
Dimopoulou, Aikaterini
|
|
2013
|
110 |
3 |
p. 352-361
10 p.
|
artikel
|
| 16 |
Imaging-genetics in dyslexia: Connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments
|
Eicher, John D.
|
|
2013
|
110 |
3 |
p. 201-212
12 p.
|
artikel
|
| 17 |
Iron staining in gammopathy-related crystal-storing histiocytosis: A misleading feature to the differential diagnosis with Gaucher's disease
|
Miura, Thais Elisa S.
|
|
2013
|
110 |
3 |
p. 414-415
2 p.
|
artikel
|
| 18 |
Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies
|
Preisler, Nicolai
|
|
2013
|
110 |
3 |
p. 287-289
3 p.
|
artikel
|
| 19 |
Late-onset Pompe disease (LOPD): Correlations between respiratory muscles CT and MRI features and pulmonary function
|
Gaeta, Michele
|
|
2013
|
110 |
3 |
p. 290-296
7 p.
|
artikel
|
| 20 |
Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse
|
Kasten, Jennifer
|
|
2013
|
110 |
3 |
p. 222-230
9 p.
|
artikel
|
| 21 |
Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration
|
Williams, Sarah
|
|
2013
|
110 |
3 |
p. 336-341
6 p.
|
artikel
|
| 22 |
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type
|
Weisfeld-Adams, James D.
|
|
2013
|
110 |
3 |
p. 241-247
7 p.
|
artikel
|
| 23 |
Optimal serum phenylalanine for adult patients with phenylketonuria (PKU)
|
Hanley, William B.
|
|
2013
|
110 |
3 |
p. 199-200
2 p.
|
artikel
|
| 24 |
Oxidative stress and Nrf2 signaling in McArdle disease
|
Kitaoka, Yu
|
|
2013
|
110 |
3 |
p. 297-302
6 p.
|
artikel
|
| 25 |
Pathogenesis of mitral valve disease in mucopolysaccharidosis VII dogs
|
Bigg, Paul W.
|
|
2013
|
110 |
3 |
p. 319-328
10 p.
|
artikel
|
| 26 |
Phenotypic variation among seven members of one family with deficiency of hypoxanthine–guanine phosphoribosyltransferase
|
Ceballos-Picot, Irène
|
|
2013
|
110 |
3 |
p. 268-274
7 p.
|
artikel
|
| 27 |
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS
|
Jung, Sunhee
|
|
2013
|
110 |
3 |
p. 237-240
4 p.
|
artikel
|
| 28 |
Role of PON2 in innate immune response in an acute infection model
|
Devarajan, Asokan
|
|
2013
|
110 |
3 |
p. 362-370
9 p.
|
artikel
|
| 29 |
Table of Contents
|
|
|
2013
|
110 |
3 |
p. iii-v
nvt p.
|
artikel
|
| 30 |
The effect of neonatal gene therapy with a gamma retroviral vector on cardiac valve disease in mucopolysaccharidosis VII dogs after a decade
|
Bigg, Paul W.
|
|
2013
|
110 |
3 |
p. 311-318
8 p.
|
artikel
|
| 31 |
The impact of informal care for patients with Pompe disease: An application of the CarerQol instrument
|
Kanters, Tim A.
|
|
2013
|
110 |
3 |
p. 281-286
6 p.
|
artikel
|
| 32 |
The relationship between anti-idursulfase antibody status and safety and efficacy outcomes in attenuated mucopolysaccharidosis II patients aged 5years and older treated with intravenous idursulfase
|
Barbier, A.J.
|
|
2013
|
110 |
3 |
p. 303-310
8 p.
|
artikel
|
| 33 |
The upstream enhancer elements of the G6PC promoter are critical for optimal G6PC expression in murine glycogen storage disease type Ia
|
Lee, Young Mok
|
|
2013
|
110 |
3 |
p. 275-280
6 p.
|
artikel
|
| 34 |
The useful preliminary diagnosis of Niemann-Pick disease type C by filipin test in blood smear
|
Takamura, Ayumi
|
|
2013
|
110 |
3 |
p. 401-404
4 p.
|
artikel
|
| 35 |
Transcriptomic and epigenetic changes in early liver steatosis associated to obesity: Effect of dietary methyl donor supplementation
|
Cordero, Paul
|
|
2013
|
110 |
3 |
p. 388-395
8 p.
|
artikel
|
| 36 |
White matter integrity and executive abilities following treatment with tetrahydrobiopterin (BH4) in individuals with phenylketonuria
|
White, Desirée A.
|
|
2013
|
110 |
3 |
p. 213-217
5 p.
|
artikel
|
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