| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease
|
Wang, Jing
|
|
|
135 |
1 |
p. 93-101
|
artikel
|
| 2 |
Corrigendum to “Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidosis” [Molecular Genetics and Metabolism 131 (2020) pages 197–205]
|
Derrick-Roberts, Ainslie
|
|
|
135 |
1 |
p. 114
|
artikel
|
| 3 |
Cover 2 / Ed. Board
|
|
|
|
135 |
1 |
p. IFC
|
artikel
|
| 4 |
Current and potential new treatment strategies for creatine deficiency syndromes
|
Fernandes-Pires, Gabriella
|
|
|
135 |
1 |
p. 15-26
|
artikel
|
| 5 |
Determining ideal balance among branched-chain amino acids in medical formula for Propionic Acidemia: A proof of concept study in healthy children
|
Saleemani, Haneen
|
|
|
135 |
1 |
p. 56-62
|
artikel
|
| 6 |
Feasible and clinical relevant outcome measures for adults with mitochondrial disease
|
Bergs, Peggy M.J.
|
|
|
135 |
1 |
p. 102-108
|
artikel
|
| 7 |
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children
|
Riley, Lisa G.
|
|
|
135 |
1 |
p. 63-71
|
artikel
|
| 8 |
From trash to treasure! The importance of preserving rare disease medical waste for basic research
|
Chapman, Kimberly A.
|
|
|
135 |
1 |
p. 1-2
|
artikel
|
| 9 |
Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD)
|
Kirby, Trevor O.
|
|
|
135 |
1 |
p. 42-46
|
artikel
|
| 10 |
Mitochondrial disease manifestations in relation to transcriptome location and function
|
Jakkamsetti, Vikram
|
|
|
135 |
1 |
p. 82-92
|
artikel
|
| 11 |
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation
|
Evangelisti, Stefania
|
|
|
135 |
1 |
p. 72-81
|
artikel
|
| 12 |
Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome
|
Masnada, Silvia
|
|
|
135 |
1 |
p. 109-113
|
artikel
|
| 13 |
Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database
|
Ficicioglu, Can
|
|
|
135 |
1 |
p. 35-41
|
artikel
|
| 14 |
Propionic acidemia in mice: Liver acyl-CoA levels and clinical course
|
Zhao, Chen
|
|
|
135 |
1 |
p. 47-55
|
artikel
|
| 15 |
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications
|
Mastrangelo, Mario
|
|
|
135 |
1 |
p. 3-14
|
artikel
|
| 16 |
The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations
|
van Vliet, D.
|
|
|
135 |
1 |
p. 27-34
|
artikel
|
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