| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Abstract Index
|
|
|
2015
|
114 |
3 |
p. 487-490
4 p.
|
artikel
|
| 2 |
Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans
|
Oppelt, Sarah A.
|
|
2015
|
114 |
3 |
p. 445-450
6 p.
|
artikel
|
| 3 |
An audit of newborn screening procedure: Impact on infants presenting clinically before results are available
|
Tal, Galit
|
|
2015
|
114 |
3 |
p. 403-408
6 p.
|
artikel
|
| 4 |
A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria
|
Burton, B.
|
|
2015
|
114 |
3 |
p. 415-424
10 p.
|
artikel
|
| 5 |
Corrigendum to “A glimpse into past, present, and future DNA sequencing” [Mol. Genet. Metab. 110 (2013) 3–24]
|
Morey, Marcos
|
|
2015
|
114 |
3 |
p. 484-
1 p.
|
artikel
|
| 6 |
Corrigendum to “Clinical and metabolic findings in patients with methionine adenosyltransferase I/III deficiency detected by newborn screening” [Mol. Genet. Metab. 110 (2013) 218–221]
|
Couce, María L.
|
|
2015
|
114 |
3 |
p. 486-
1 p.
|
artikel
|
| 7 |
Corrigendum to “Risk factors for developing mineral bone disease in phenylketonuric patients” [Mol. Genet. Metab. 108 (2013) 149–154]
|
Mirás, Alicia
|
|
2015
|
114 |
3 |
p. 483-
1 p.
|
artikel
|
| 8 |
Corrigendum to “Tetrahydrobiopterin therapy vs phenylalanine-restricted diet: Impact on growth in PKU” [Mol. Genet. Metab. 109 (2013) 331–338]
|
Aldámiz-Echevarría, Luis
|
|
2015
|
114 |
3 |
p. 485-
1 p.
|
artikel
|
| 9 |
Editorial Board
|
|
|
2015
|
114 |
3 |
p. IFC-
1 p.
|
artikel
|
| 10 |
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation
|
Laemmle, Alexander
|
|
2015
|
114 |
3 |
p. 438-444
7 p.
|
artikel
|
| 11 |
Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia
|
Nellist, Mark
|
|
2015
|
114 |
3 |
p. 467-473
7 p.
|
artikel
|
| 12 |
Hyperphenylalaninemia and the genomic revolution
|
Rajabi, Farrah
|
|
2015
|
114 |
3 |
p. 380-381
2 p.
|
artikel
|
| 13 |
Individualized long-term outcomes in blood phenylalanine concentrations and dietary phenylalanine tolerance in 11 patients with primary phenylalanine hydroxylase (PAH) deficiency treated with Sapropterin-dihydrochloride
|
Stockler-Ipsiroglu, Sylvia
|
|
2015
|
114 |
3 |
p. 409-414
6 p.
|
artikel
|
| 14 |
Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features
|
Rafi, Mohammad A.
|
|
2015
|
114 |
3 |
p. 459-466
8 p.
|
artikel
|
| 15 |
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?
|
Liemburg, Geertje B.
|
|
2015
|
114 |
3 |
p. 425-430
6 p.
|
artikel
|
| 16 |
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
|
Falk, Marni J.
|
|
2015
|
114 |
3 |
p. 388-396
9 p.
|
artikel
|
| 17 |
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism
|
Bennett, James T.
|
|
2015
|
114 |
3 |
p. 451-458
8 p.
|
artikel
|
| 18 |
Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome
|
Gertsman, Ilya
|
|
2015
|
114 |
3 |
p. 431-437
7 p.
|
artikel
|
| 19 |
Program and Abstracts for the SIMD Annual Meeting
|
|
|
2015
|
114 |
3 |
p. 295-379
85 p.
|
artikel
|
| 20 |
Table of Contents
|
|
|
2015
|
114 |
3 |
p. iii-iv
nvt p.
|
artikel
|
| 21 |
Targeting novel signaling pathways for resistant acute myeloid leukemia
|
Sakamoto, Kathleen M.
|
|
2015
|
114 |
3 |
p. 397-402
6 p.
|
artikel
|
| 22 |
Why screen newborns for profound and partial biotinidase deficiency?
|
Wolf, Barry
|
|
2015
|
114 |
3 |
p. 382-387
6 p.
|
artikel
|
| 23 |
York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1
|
Markello, Thomas
|
|
2015
|
114 |
3 |
p. 474-482
9 p.
|
artikel
|
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