| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies
|
Parikh, Sumit
|
|
2015
|
114 |
4 |
p. 501-515
15 p.
|
article
|
| 2 |
Case definition and classification of leukodystrophies and leukoencephalopathies
|
Vanderver, Adeline
|
|
2015
|
114 |
4 |
p. 494-500
7 p.
|
article
|
| 3 |
Consensus statement on preventive and symptomatic care of leukodystrophy patients
|
Van Haren, Keith
|
|
2015
|
114 |
4 |
p. 516-526
11 p.
|
article
|
| 4 |
Consequences of impaired purine recycling on the proteome in a cellular model of Lesch–Nyhan disease
|
Dammer, Eric B.
|
|
2015
|
114 |
4 |
p. 570-579
10 p.
|
article
|
| 5 |
Corrigendum to “Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy” [Mol. Genet. Metab. 106 (2012) 345–350]
|
Vauthier, Virginie
|
|
2015
|
114 |
4 |
p. 613-
1 p.
|
article
|
| 6 |
Delayed diagnosis of late-onset Pompe disease in patients with myopathies of unknown origin and/or hyperCKemia
|
Pérez-López, Jordi
|
|
2015
|
114 |
4 |
p. 580-583
4 p.
|
article
|
| 7 |
Disease specific therapies in leukodystrophies and leukoencephalopathies
|
Helman, Guy
|
|
2015
|
114 |
4 |
p. 527-536
10 p.
|
article
|
| 8 |
Editorial Board
|
|
|
2015
|
114 |
4 |
p. IFC-
1 p.
|
article
|
| 9 |
Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps
|
Salsano, Ettore
|
|
2015
|
114 |
4 |
p. 491-493
3 p.
|
article
|
| 10 |
Long-term safety and efficacy of sapropterin: The PKUDOS registry experience
|
Longo, Nicola
|
|
2015
|
114 |
4 |
p. 557-563
7 p.
|
article
|
| 11 |
Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells
|
Jackson, Matilda
|
|
2015
|
114 |
4 |
p. 584-593
10 p.
|
article
|
| 12 |
Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines
|
Vogel, B.H.
|
|
2015
|
114 |
4 |
p. 599-603
5 p.
|
article
|
| 13 |
Nucleotide substitutions revealing specific functions of Polycomb group genes
|
Bajusz, Izabella
|
|
2015
|
114 |
4 |
p. 547-556
10 p.
|
article
|
| 14 |
Ocular disease in the cobalamin C defect: A review of the literature and a suggested framework for clinical surveillance
|
Weisfeld-Adams, James D.
|
|
2015
|
114 |
4 |
p. 537-546
10 p.
|
article
|
| 15 |
Perinatal nicotine exposure suppresses PPARγ epigenetically in lung alveolar interstitial fibroblasts
|
Gong, M.
|
|
2015
|
114 |
4 |
p. 604-612
9 p.
|
article
|
| 16 |
Quantifying behaviors of children with Sanfilippo syndrome: The Sanfilippo Behavior Rating Scale
|
Shapiro, Elsa G.
|
|
2015
|
114 |
4 |
p. 594-598
5 p.
|
article
|
| 17 |
Table of Contents
|
|
|
2015
|
114 |
4 |
p. iii-iv
nvt p.
|
article
|
| 18 |
Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling
|
Trefz, Friedrich
|
|
2015
|
114 |
4 |
p. 564-569
6 p.
|
article
|
Journal description