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PubPharm (271)
1
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Posset, R.
|
Garbade, S.
|
Gleich, F.
| +58
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2
Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations
enthalten in:
Molecular genetics and metabolism
| 2024
von
Reischl-Hajiabadi, A.
|
Okun, J.
|
Kohlmüller, D.
| +11
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3
Neuron-astrocyte metabolic coupling facilitates spinal plasticity and maintenance of inflammatory pain
enthalten in:
Nature metabolism
| 2024
von
Marty-Lombardi, S.
|
Lu, S.
|
Ambroziak, W.
| +12
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4
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years : Experience from a German Newborn Screening Center
enthalten in:
International journal of neonatal screening
| 2024
von
Gramer, G.
|
Wortmann, S.
|
Fang-Hoffmann, J.
| +5
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5
ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae
enthalten in:
Molecular genetics and metabolism
| 2024
von
Seidl, M.
|
Scharre, S.
|
Posset, R.
| +7
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6
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis
enthalten in:
International journal of neonatal screening
| 2024
von
Maier, P.
|
Jeyaweerasinkam, S.
|
Eberhard, J.
| +9
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7
Neuron-astrocyte metabolic coupling facilitates spinal plasticity and maintenance of inflammatory pain [data]
Erschienen: Heidelberg,
Universität,
2024-01-26
von
Marty-Lombardi, S.
|
Lu, S.
|
Ambroziak, W.
| +12
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8
Neuron-astrocyte metabolic coupling facilitates spinal plasticity and maintenance of inflammatory pain
enthalten in:
Nature metabolism
| 05 March 2024
von
Marty-Lombardi, S.
|
Lu, S.
|
Ambroziak, W.
| +12
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9
High Throughput Newborn Screening for Sickle Cell Disease - Application of Two-Tiered Testing with a qPCR-Based Primary screen
enthalten in:
Klinische Padiatrie
| 2023
von
Janda, J.
|
Hegert, S.
|
Bzdok, J.
| +10
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10
A six-month periodic fasting reduces microalbuminuria and improves metabolic control in patients with type 2 diabetes and diabetic nephropathy: a randomized controlled study
enthalten in:
bioRxiv.org
| 2023
von
Sulaj, A.
|
Kopf, S.
|
von Rauchhaupt, E.
| +16
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49
Journal of inherited metabolic disease
11
Molecular genetics and metabolism
7
Biochimica et biophysica acta
7
The journal of biological chemistry
6
Journal of Inherited Metabolic Disease
5
Acta neuropathologica
5
Annals of hematology
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Acta diabetologica
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Clinical and experimental nephrology
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EMBO molecular medicine
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Journal of neuroscience research
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4
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4
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4
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109
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71
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15
Glutarates
13
Newborn screening
11
EC 1.3.8.6
11
Glutaric Aciduria Type
11
Glutaryl-CoA Dehydrogenase
9
Carnitine
9
H849F7N00B
9
S7UI8SM58A
9
glutaric acid
9
newborn screening
8
8LL8S712J7
8
Biomarkers
8
Dystonia
8
Methylmalonic Acid
7
Comparative Study
7
Fatty Acids
6
3-hydroxyglutaric acid
6
K3Z4F929H6
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2020-
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