| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition
|
Häuser, Friederike
|
|
|
130 |
1 |
p. 27-35
|
article
|
| 2 |
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers
|
Eskes, Eline C.B.
|
|
|
130 |
1 |
p. 16-26
|
article
|
| 3 |
Cardiac phenotype in propionic acidemia – Results of an observational monocentric study
|
Kovacevic, A.
|
|
|
130 |
1 |
p. 41-48
|
article
|
| 4 |
Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C
|
Cooper, J.A.
|
|
|
130 |
1 |
p. 77-86
|
article
|
| 5 |
Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations
|
Horvath, Gabriella A.
|
|
|
130 |
1 |
p. 1-6
|
article
|
| 6 |
Cover 2 / Ed. Board
|
|
|
|
130 |
1 |
p. IFC
|
article
|
| 7 |
Estimated prevalence of moderate to severely elevated total homocysteine levels in the United States: A missed opportunity for diagnosis of homocystinuria?
|
Sellos-Moura, Marcia
|
|
|
130 |
1 |
p. 36-40
|
article
|
| 8 |
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency
|
Davids, Mariska
|
|
|
130 |
1 |
p. 49-57
|
article
|
| 9 |
Penetrance and predictive value of genetic screening in acute porphyria
|
Baumann, K.
|
|
|
130 |
1 |
p. 87-99
|
article
|
| 10 |
Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)
|
Kripps, KimberlyA.
|
|
|
130 |
1 |
p. 58-64
|
article
|
| 11 |
Table of Contents
|
|
|
|
130 |
1 |
p. iii
|
article
|
| 12 |
Urinary glycosaminoglycans as a potential biomarker for evaluating treatment efficacy in subjects with mucopolysaccharidoses
|
Kakkis, Emil
|
|
|
130 |
1 |
p. 7-15
|
article
|
| 13 |
Vestronidase alfa: Recombinant human β-glucuronidase as an enzyme replacement therapy for MPS VII
|
Cadaoas, Jaclyn
|
|
|
130 |
1 |
p. 65-76
|
article
|
Journal description