| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abstract Index
|
|
|
2016
|
117 |
3 |
p. 389-391
3 p.
|
artikel
|
| 2 |
Abstracts
|
|
|
2016
|
117 |
3 |
p. 221-298
78 p.
|
artikel
|
| 3 |
Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism
|
Pupavac, Mihaela
|
|
2016
|
117 |
3 |
p. 363-368
6 p.
|
artikel
|
| 4 |
Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation
|
Shen, Nan
|
|
2016
|
117 |
3 |
p. 328-335
8 p.
|
artikel
|
| 5 |
Copy number variation (CNV) analysis and mutation analysis of the 6q14.1–6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients
|
Geets, Ellen
|
|
2016
|
117 |
3 |
p. 383-388
6 p.
|
artikel
|
| 6 |
Editorial Board
|
|
|
2016
|
117 |
3 |
p. IFC-
1 p.
|
artikel
|
| 7 |
Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10year combined experience of 2 centres
|
Ghosh, Arunabha
|
|
2016
|
117 |
3 |
p. 373-377
5 p.
|
artikel
|
| 8 |
Exhibitors of the 2016 SIMD Annual Meeting
|
|
|
2016
|
117 |
3 |
p. 299-
1 p.
|
artikel
|
| 9 |
Forty-eight novel mutations causing biotinidase deficiency
|
Procter, Melinda
|
|
2016
|
117 |
3 |
p. 369-372
4 p.
|
artikel
|
| 10 |
Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options
|
Gerards, Mike
|
|
2016
|
117 |
3 |
p. 300-312
13 p.
|
artikel
|
| 11 |
Living related versus deceased donor liver transplantation for maple syrup urine disease
|
Feier, Flavia
|
|
2016
|
117 |
3 |
p. 336-343
8 p.
|
artikel
|
| 12 |
Low bone mineral density is a common finding in patients with homocystinuria
|
Weber, David R.
|
|
2016
|
117 |
3 |
p. 351-354
4 p.
|
artikel
|
| 13 |
Metabolic Diet App Suite for inborn errors of amino acid metabolism
|
Ho, Gloria
|
|
2016
|
117 |
3 |
p. 322-327
6 p.
|
artikel
|
| 14 |
Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia
|
Sørensen, Jannie Tanderup
|
|
2016
|
117 |
3 |
p. 344-350
7 p.
|
artikel
|
| 15 |
Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines
|
Braverman, Nancy E.
|
|
2016
|
117 |
3 |
p. 313-321
9 p.
|
artikel
|
| 16 |
Recapitulation of metabolic defects in a model of propionic acidemia using patient-derived primary hepatocytes
|
Chapman, Kimberly A.
|
|
2016
|
117 |
3 |
p. 355-362
8 p.
|
artikel
|
| 17 |
Restoration of the serum level of SERPINF1 does not correct the bone phenotype in Serpinf1 null mice
|
Rajagopal, Abbhirami
|
|
2016
|
117 |
3 |
p. 378-382
5 p.
|
artikel
|
| 18 |
Table of Contents
|
|
|
2016
|
117 |
3 |
p. iii-iv
nvt p.
|
artikel
|
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