| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program
|
Chiang, Shu-Chuan
|
|
2012
|
106 |
3 |
p. 281-286
6 p.
|
artikel
|
| 2 |
Allelic variations in superoxide dismutase-1 (SOD1) gene and renal and cardiovascular morbidity and mortality in type 2 diabetic subjects
|
Neves, Ana Luísa
|
|
2012
|
106 |
3 |
p. 359-365
7 p.
|
artikel
|
| 3 |
Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening
|
Vilarinho, Laura
|
|
2012
|
106 |
3 |
p. 277-280
4 p.
|
artikel
|
| 4 |
Editorial Board
|
|
|
2012
|
106 |
3 |
p. IFC-
1 p.
|
artikel
|
| 5 |
Erratum to “The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients” Molecular Genetics and Metabolism (2012) [34–43]
|
Patel, Kavi P.
|
|
2012
|
106 |
3 |
p. 384-
1 p.
|
artikel
|
| 6 |
Homozygous deletion of an 80kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy
|
Vauthier, Virginie
|
|
2012
|
106 |
3 |
p. 345-350
6 p.
|
artikel
|
| 7 |
Identification of a mutation in LARS as a novel cause of infantile hepatopathy
|
Casey, Jillian P.
|
|
2012
|
106 |
3 |
p. 351-358
8 p.
|
artikel
|
| 8 |
Immunological cell type characterization and Th1–Th17 cytokine production in a mouse model of Gaucher disease
|
Pandey, Manoj Kumar
|
|
2012
|
106 |
3 |
p. 310-322
13 p.
|
artikel
|
| 9 |
Is lipid metabolism altered in classical homocystinuria?
|
Poloni, Soraia
|
|
2012
|
106 |
3 |
p. 382-383
2 p.
|
artikel
|
| 10 |
McArdle disease: A novel mutation in Jewish families from the Caucasus region
|
Haimi Cohen, Yishai
|
|
2012
|
106 |
3 |
p. 379-381
3 p.
|
artikel
|
| 11 |
Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: Evidence that N370S is a folding mutant
|
Babajani, Gholamreza
|
|
2012
|
106 |
3 |
p. 323-329
7 p.
|
artikel
|
| 12 |
Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1
|
Kretz, Rita
|
|
2012
|
106 |
3 |
p. 375-378
4 p.
|
artikel
|
| 13 |
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis
|
Zimmermann, M.
|
|
2012
|
106 |
3 |
p. 264-268
5 p.
|
artikel
|
| 14 |
Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update
|
Patterson, Marc C.
|
|
2012
|
106 |
3 |
p. 330-344
15 p.
|
artikel
|
| 15 |
Recommendations for the use of sapropterin in phenylketonuria
|
Cunningham, Amy
|
|
2012
|
106 |
3 |
p. 269-276
8 p.
|
artikel
|
| 16 |
Single nucleotide polymorphisms in sFRP4 are associated with bone and body composition related parameters in Danish but not in Belgian men
|
Boudin, Eveline
|
|
2012
|
106 |
3 |
p. 366-374
9 p.
|
artikel
|
| 17 |
Table of Contents
|
|
|
2012
|
106 |
3 |
p. iii-iv
nvt p.
|
artikel
|
| 18 |
The impact of antibodies in late-onset Pompe disease: A case series and literature review
|
Patel, Trusha T.
|
|
2012
|
106 |
3 |
p. 301-309
9 p.
|
artikel
|
| 19 |
The role of saposin C in Gaucher disease
|
Tamargo, Rafael J.
|
|
2012
|
106 |
3 |
p. 257-263
7 p.
|
artikel
|
| 20 |
The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients
|
Patel, Kavi P.
|
|
2012
|
106 |
3 |
p. 385-394
10 p.
|
artikel
|
| 21 |
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients
|
Palermo, A.T.
|
|
2012
|
106 |
3 |
p. 287-300
14 p.
|
artikel
|
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