| no |
title |
author |
magazine |
year |
volume |
issue |
page(s) |
type |
| 1 |
Brain proton MR spectroscopy measurements in CLN3 disease
|
Dang Do, An N.
|
|
|
139 |
1 |
p.
|
article
|
| 2 |
Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects
|
de Boer, Lonneke
|
|
|
139 |
1 |
p.
|
article
|
| 3 |
Corrigendum to “Gene therapy for Fabry disease: Progress, challenges, and outlooks on gene-editing” [2021 Sep-Oct;134(1–2):117–131]
|
Domm, Jakob M.
|
|
|
139 |
1 |
p.
|
article
|
| 4 |
Cover 2 / Ed. Board
|
|
|
|
139 |
1 |
p.
|
article
|
| 5 |
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease
|
Oliva, Petra
|
|
|
139 |
1 |
p.
|
article
|
| 6 |
Neuropsychological assessment of adults with phenylketonuria using the NIH toolbox
|
Christ, Shawn E.
|
|
|
139 |
1 |
p.
|
article
|
| 7 |
Phenylketonuria and the brain
|
Rovelli, Valentina
|
|
|
139 |
1 |
p.
|
article
|
| 8 |
Pompe disease ascertained through The Lantern Project, 2018–2021: Next-generation sequencing and enzymatic testing to overcome obstacles to diagnosis
|
Sniderman King, Lisa
|
|
|
139 |
1 |
p.
|
article
|
| 9 |
Table of Contents
|
|
|
|
139 |
1 |
p.
|
article
|
| 10 |
Two years of pegvaliase in Germany: Experiences and best practice recommendations
|
Krämer, Johannes
|
|
|
139 |
1 |
p.
|
article
|
Journal description