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PubPharm (25)
1
"Hide and seek" : Misleading transferrin variants in PMM2-CDG complicate diagnostics
enthalten in:
Proteomics. Clinical applications
| 2024
von
Raynor, A.
|
Bruneel, A.
|
Vermeersch, P.
| +9
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2
A systematic review of metabolomic findings in adult and pediatric renal disease
enthalten in:
Clinical biochemistry
| 2024
von
Moritz, L.
|
Schumann, A.
|
Pohl, M.
| +3
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3
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
enthalten in:
Journal of neurology, neurosurgery, and psychiatry
| 2024
von
Syeda, S.
|
Lone, M.
|
Mohassel, P.
| +23
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4
Increased cerebral lactate levels in adults with autism spectrum disorders compared to non-autistic controls : a magnetic resonance spectroscopy study
enthalten in:
Molecular autism
| 2023
von
Maier, S.
|
Nickel, K.
|
Lange, T.
| +8
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5
Clinical and biochemical footprints of inherited metabolic diseases. XIV. Metabolic kidney diseases
enthalten in:
Molecular genetics and metabolism
| 2023
von
Schumann, A.
|
Schultheiss, U.
|
Ferreira, C.
| +1
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6
Altered markers of mitochondrial function in adults with autism spectrum disorder
enthalten in:
Autism research : official journal of the International Society for Autism Research
| 2023
von
Nickel, K.
|
Menke, M.
|
Endres, D.
| +6
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7
The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria
enthalten in:
Scientific reports
| 2023
von
Schumann, A.
|
Brutsche, M.
|
Havermans, M.
| +5
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8
Attitudes Toward Engagement in Citizen Science Increase Self-Related, Ecology-Related, and Motivation-Related Outcomes in an Urban Wildlife Project
enthalten in:
Bioscience
| 2023
von
Greving, H.
|
Bruckermann, T.
|
Schumann, A.
| +6
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9
Analysis of S-Adenosylmethionine and S-Adenosylhomocysteine : Method Optimisation and Profiling in Healthy Adults upon Short-Term Dietary Intervention
enthalten in:
Metabolites
| 2022
von
Bravo, A.
|
Aguilera, M.
|
Marziali, N.
| +10
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10
Evaluating the potential of urban areas for bat conservation with citizen science data
enthalten in:
Environmental pollution (Barking, Essex : 1987)
| 2022
von
Lewanzik, D.
|
Straka, T.
|
Lorenz, J.
| +5
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Thema: Journal Article
Medienart
25
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25
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Zeitschriftentitel
3
Journal of inherited metabolic disease
3
Orphanet journal of rare diseases
2
Metabolites
1
Autism research : official journal of the Inter...
1
Biochimie
1
Bioscience
1
Clinical biochemistry
1
Environmental pollution (Barking, Essex : 1987)
1
Genes
1
Journal of neurology, neurosurgery, and psychiatry
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Molecular autism
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Molecular genetics and metabolism
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Molecular genetics and metabolism reports
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Nature communications
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Nutrition journal
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PloS one
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Proteomics. Clinical applications
1
Scientific reports
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The Journal of animal ecology
1
The Journal of biological chemistry
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Thema
Journal Article
13
Research Support, Non-U.S. Gov't
5
Case Reports
3
Biomarkers
3
Carnitine
3
EC 5.4.99.2
3
Methylmalonyl-CoA Mutase
3
Review
3
S7UI8SM58A
3
autophagy
2
33X04XA5AT
2
8LL8S712J7
2
Chronic kidney disease
2
EC 5.4.2.-
2
Inborn error of metabolism
2
Lactic Acid
2
Methylmalonic Acid
2
PMM2-CDG
2
Phosphotransferases (Phosphomutases)
2
Pregnancy
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Erscheinungszeitraum
21
2020-
4
2010-2019
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Englisch
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