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PubPharm (47)
1
Specific GAG ratios in the diagnosis of mucopolysaccharidoses
enthalten in:
JIMD reports
| 2024
von
Mathis, D.
|
Prost, J.
|
Maeder, G.
| +5
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2
Induced pluripotent stem cell-derived hepatocytes reveal TCA cycle disruption and the potential basis for triheptanoin treatment for malate dehydrogenase 2 deficiency
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Mathis, D.
|
Koch, J.
|
Koller, S.
| +6
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3
Levels of Circulating Ketone Bodies in Patients Undergoing Cardiac Surgery on Cardiopulmonary Bypass
enthalten in:
Cells
| 2024
von
Levis, A.
|
Huber, M.
|
Mathis, D.
| +5
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4
Specific GAG ratios in the diagnosis of mucopolysaccharidoses
enthalten in:
JIMD Reports
| 2024
von
Mathis, D.
|
Prost, J.
|
Maeder, G.
| +5
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5
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma : Relevance to pyridoxine-dependent epilepsy
enthalten in:
Journal of inherited metabolic disease
| 2023
von
Crowther, L.
|
Poms, M.
|
Zandl-Lang, M.
| +5
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6
Metabolomics analysis of antiquitin deficiency in cultured human cells and plasma : Relevance to pyridoxine‐dependent epilepsy
enthalten in:
Journal of Inherited Metabolic Disease
| 2023
von
Crowther, L.
|
Poms, M.
|
Zandl‐Lang, M.
| +5
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7
ACADM Frameshift Variant in Cavalier King Charles Spaniels with Medium-Chain Acyl-CoA Dehydrogenase Deficiency
enthalten in:
Genes
| 2022
von
Christen, M.
|
Bongers, J.
|
Mathis, D.
| +3
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8
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases
enthalten in:
Journal of inherited metabolic disease
| 2022
von
Mathis, D.
|
Croft, J.
|
Chrastina, P.
| +3
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9
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases
enthalten in:
Journal of Inherited Metabolic Disease
| 2022
von
Mathis, D.
|
Croft, J.
|
Chrastina, P.
| +3
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10
Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses
enthalten in:
Molecular genetics and metabolism reports
| 2021
von
Mathis, D.
|
Sass, J.
|
Graubner, C.
| +1
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Journal of inherited metabolic disease
5
Journal of Inherited Metabolic Disease
5
The Journal of medical practice management : MPM
2
Clinical biochemistry
2
JIMD Reports
2
JIMD reports
2
Journal of the American Chemical Society
2
Molecular genetics and metabolism reports
2
Organometallics
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American journal of physiology. Renal physiology
1
Biochimica et biophysica acta. Molecular basis ...
1
Cells
1
Clinica chimica acta
1
Clinica chimica acta; international journal of ...
1
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Helvetica chimica acta
1
Journal of medical genetics
1
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1
Swiss medical weekly
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Thema
28
Journal Article
7
Biomarkers
7
Research Support, Non-U.S. Gov't
5
Aldehyde Dehydrogenase
5
EC 1.2.1.3
4
Pyridoxic Acid
4
Spermidine
3
8059-24-3
3
ALDH7A1 protein, human
3
Clinical Exome Sequencing
3
Epileptic Encephalopathy
3
H254GW7PVV
3
HFBA
3
Healthy Proband
3
Hypophosphatasia
3
K3Z4F929H6
3
KV2JZ1BI6Z
3
Lysine
3
Myoclonic Jerk
3
Pipecolic Acids
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Erscheinungszeitraum
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2020-
26
2010-2019
3
2000-2009
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