| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV
|
Yi, Haiqing
|
|
2016
|
9 |
C |
p. 31-33
3 p.
|
article
|
| 2 |
Case report: 5year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS)
|
Sunde, Kiri
|
|
2016
|
9 |
C |
p. 94-97
4 p.
|
article
|
| 3 |
Diagnosis of a mild peroxisomal phenotype with next-generation sequencing
|
Ventura, Meredith J.
|
|
2016
|
9 |
C |
p. 75-78
4 p.
|
article
|
| 4 |
Differential gene expression during early development in brains of wildtype and biotinidase-deficient mice
|
Brigolin, Christian
|
|
2016
|
9 |
C |
p. 35-41
7 p.
|
article
|
| 5 |
Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state
|
Matsuoka, Takashi
|
|
2016
|
9 |
C |
p. 98-105
8 p.
|
article
|
| 6 |
Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometry
|
Mashima, Ryuichi
|
|
2016
|
9 |
C |
p. 6-11
6 p.
|
article
|
| 7 |
Liver-specific knockout of arginase-1 leads to a profound phenotype similar to inducible whole body arginase-1 deficiency
|
Ballantyne, Laurel L.
|
|
2016
|
9 |
C |
p. 54-60
7 p.
|
article
|
| 8 |
LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family
|
Nunes, D
|
|
2016
|
9 |
C |
p. 29-30
2 p.
|
article
|
| 9 |
Methylmalonyl-coA epimerase deficiency: A new case, with an acute metabolic presentation and an intronic splicing mutation in the MCEE gene
|
Waters, Paula J.
|
|
2016
|
9 |
C |
p. 19-24
6 p.
|
article
|
| 10 |
Mitochondrial m.3243A>G mutation and carotid artery dissection
|
Mancuso, Michelangelo
|
|
2016
|
9 |
C |
p. 12-14
3 p.
|
article
|
| 11 |
Mitochondrial vasculopathy due to the m.3243A>G mutation is not restricted to the carotid artery
|
Finsterer, Josef
|
|
2016
|
9 |
C |
p. 34-
1 p.
|
article
|
| 12 |
30 months follow-up of an early enzyme replacement therapy in a severe Morquio A patient: About one case
|
Do Cao, J.
|
|
2016
|
9 |
C |
p. 42-45
4 p.
|
article
|
| 13 |
Neonatal presentation of familial glucocorticoid deficiency with a MRAP mutation: A case report
|
Chen, Chun
|
|
2016
|
9 |
C |
p. 15-17
3 p.
|
article
|
| 14 |
Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome?
|
Finsterer, Josef
|
|
2016
|
9 |
C |
p. 18-
1 p.
|
article
|
| 15 |
Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz
|
Ortiz-Cabrera, N.V.
|
|
2016
|
9 |
C |
p. 79-85
7 p.
|
article
|
| 16 |
Plasma amino acid and urine organic acid profiles of Filipino patients with maple syrup urine disease (MSUD) and correlation with their neurologic features
|
Chiong, Mary Anne D.
|
|
2016
|
9 |
C |
p. 46-53
8 p.
|
article
|
| 17 |
Stability is maintained in adults with Gaucher disease type 1 switched from velaglucerase alfa to eliglustat or imiglucerase: A sub-analysis of the eliglustat ENCORE trial
|
Pleat, Rebecca
|
|
2016
|
9 |
C |
p. 25-28
4 p.
|
article
|
| 18 |
Studies of the autoinhibitory segment comprising residues 31–60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations
|
Wierød, Lene
|
|
2016
|
9 |
C |
p. 86-93
8 p.
|
article
|
| 19 |
The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism
|
Purevsuren, Jamiyan
|
|
2016
|
9 |
C |
p. 71-74
4 p.
|
article
|
| 20 |
The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders
|
Opladen, Thomas
|
|
2016
|
9 |
C |
p. 61-66
6 p.
|
article
|
| 21 |
The personal burden for caregivers of children with phenylketonuria: A cross-sectional study investigating time burden and costs in the UK
|
MacDonald, Anita
|
|
2016
|
9 |
C |
p. 1-5
5 p.
|
article
|
| 22 |
Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene
|
Leren, Trond P.
|
|
2016
|
9 |
C |
p. 67-70
4 p.
|
article
|
Journal description