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Urine levels of 5-aminoimidazole-4-carboxamide riboside (AICAR) in patients with type 2 diabetes.
- Published in:
- Acta Diabetologica, 2018, v. 55, n. 6, p. 585, doi. 10.1007/s00592-018-1130-2
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- Publication type:
- Article
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
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- Nutrients, 2023, v. 15, n. 15, p. 3355, doi. 10.3390/nu15153355
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- Publication type:
- Article
High incidence of maternal vitamin B<sub>12</sub> deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.
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- World Journal of Pediatrics, 2018, v. 14, n. 5, p. 470, doi. 10.1007/s12519-018-0159-1
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- Publication type:
- Article
Xanthohumol-induced transient superoxide anion radical formation triggers cancer cells into apoptosis via a mitochondria-mediated mechanism.
- Published in:
- FASEB Journal, 2010, v. 24, n. 8, p. 2938, doi. 10.1096/fj.10-155846
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- Publication type:
- Article
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood–brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
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- Journal of Neurochemistry, 2006, v. 97, n. 3, p. 899, doi. 10.1111/j.1471-4159.2006.03813.x
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- Publication type:
- Article
Interactions between the gut microbiome, associated metabolites and the manifestation and progression of heart failure with preserved ejection fraction in ZSF1 rats.
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- Cardiovascular Diabetology, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12933-024-02398-6
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- Publication type:
- Article
Potential of blood-based biomarker approaches in endometrium and breast cancer: a case-control comparison study.
- Published in:
- Archives of Gynecology & Obstetrics, 2022, v. 306, n. 5, p. 1623, doi. 10.1007/s00404-022-06482-8
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- Publication type:
- Article
The β-hydroxybutyrate receptor HCA<sub>2</sub> activates a neuroprotective subset of macrophages.
- Published in:
- Nature Communications, 2014, v. 5, n. 5, p. 3944, doi. 10.1038/ncomms4944
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- Publication type:
- Article
Fasting-induced liver GADD45β restrains hepatic fatty acid uptake and improves metabolic health.
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- EMBO Molecular Medicine, 2016, v. 8, n. 6, p. 654, doi. 10.15252/emmm.201505801
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- Publication type:
- Article
Calorie restriction improves metabolic state independently of gut microbiome composition: a randomized dietary intervention trial.
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- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01030-0
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- Publication type:
- Article
Dietary stearic acid regulates mitochondria in vivo in humans.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-05614-6
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- Publication type:
- Article
A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.
- Published in:
- PLoS ONE, 2023, v. 17, n. 3, p. 1, doi. 10.1371/journal.pone.0283024
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- Publication type:
- Article
Six-Month Periodic Fasting in Patients With Type 2 Diabetes and Diabetic Nephropathy: A Proof-of-Concept Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. 2167, doi. 10.1210/clinem/dgac197
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- Publication type:
- Article
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1715, doi. 10.1002/acn3.51668
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- Publication type:
- Article
Assessment of methylcitrate and methylcitrate to citrate ratio in dried blood spots as biomarkers for inborn errors of propionate metabolism.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-48885-9
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- Publication type:
- Article
Ubiquinol-induced gene expression signatures are translated into altered parameters of erythropoiesis and reduced low density lipoprotein cholesterol levels in humans.
- Published in:
- IUBMB Life, 2011, v. 63, n. 1, p. 42, doi. 10.1002/iub.413
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- Publication type:
- Article
The reduced form of coenzyme Q.
- Published in:
- IUBMB Life, 2010, v. 62, n. 11, p. 812, doi. 10.1002/iub.388
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- Publication type:
- Article
A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
- Published in:
- EMBO Molecular Medicine, 2010, v. 2, n. 2, p. 51, doi. 10.1002/emmm.200900055
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- Publication type:
- Article
Increased levels of 2-hydroxyglutarate in AML patients with IDH1-R132H and IDH2-R140Q mutations Letter to the Editor.
- Published in:
- European Journal of Haematology, 2010, v. 85, n. 5, p. 457, doi. 10.1111/j.1600-0609.2010.01505.x
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- Article
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 17, doi. 10.3390/ijns10010017
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- Publication type:
- Article
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 5, doi. 10.3390/ijns10010005
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- Publication type:
- Article
Kidney urinary biomarkers in patients with branched‐chain amino acid and cobalamin metabolism defects.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1078, doi. 10.1002/jimd.12672
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- Publication type:
- Article
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC‐MS/MS analysis platform.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 712, doi. 10.1002/jimd.12213
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- Publication type:
- Article
High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐O‐methyldopa from dried blood spots.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 602, doi. 10.1002/jimd.12208
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- Publication type:
- Article
Impairment of astrocytic glutaminolysis in glutaric aciduria type I.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 91, doi. 10.1007/s10545-017-0096-5
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- Publication type:
- Article
Ursodeoxycholyl Lysophosphatidylethanolamide modifies aberrant lipid profiles in NAFLD.
- Published in:
- European Journal of Clinical Investigation, 2015, v. 45, n. 9, p. 925, doi. 10.1111/eci.12486
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- Publication type:
- Article
Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders.
- Published in:
- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0184897
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- Publication type:
- Article
Blood Trimethylamine-N-Oxide Originates from Microbiota Mediated Breakdown of Phosphatidylcholine and Absorption from Small Intestine.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170742
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- Publication type:
- Article
Detection of 2-Hydroxyglutarate in Formalin-Fixed Paraffin-Embedded Glioma Specimens by Gas Chromatography/Mass Spectrometry.
- Published in:
- Brain Pathology, 2012, v. 22, n. 1, p. 26, doi. 10.1111/j.1750-3639.2011.00506.x
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- Publication type:
- Article
Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 2, p. 168, doi. 10.1002/jmd2.12273
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- Publication type:
- Article
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 59, doi. 10.1002/jmd2.12130
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- Article
Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis.
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- Communications Biology, 2020, v. 3, n. 1, p. N.PAG, doi. 10.1038/s42003-020-01442-x
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- Publication type:
- Article
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria.
- Published in:
- European Journal of Neuroscience, 2002, v. 16, n. 1, p. 21, doi. 10.1046/j.1460-9568.2002.02055.x
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- Publication type:
- Article
QDPR homologues in Danio rerio regulate melanin synthesis, early gliogenesis, and glutamine homeostasis.
- Published in:
- PLoS ONE, 2019, v. 14, n. 4, p. 1, doi. 10.1371/journal.pone.0215162
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- Publication type:
- Article
Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation.
- Published in:
- PLoS ONE, 2019, v. 14, n. 2, p. 1, doi. 10.1371/journal.pone.0212458
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- Publication type:
- Article
Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 1, p. 157, doi. 10.1093/brain/awq269
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- Article
From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.
- Published in:
- Human Mutation, 2020, v. 41, n. 5, p. 946, doi. 10.1002/humu.23983
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- Publication type:
- Article
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation.
- Published in:
- Metabolites (2218-1989), 2021, v. 11, n. 10, p. 680, doi. 10.3390/metabo11100680
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- Publication type:
- Article
Targeted Metabolomic Profiling of Total Fatty Acids in Human Plasma by Liquid Chromatography-Tandem Mass Spectrometry.
- Published in:
- Metabolites (2218-1989), 2020, v. 10, n. 10, p. 400, doi. 10.3390/metabo10100400
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- Publication type:
- Article
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
- Published in:
- 2016
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- Publication type:
- journal article
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
- Published in:
- Annals of Neurology, 2004, v. 55, n. 1, p. 7
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- Publication type:
- Article
2-Hydroxyglutarate concentration in serum from patients with gliomas does not correlate with IDH1/2 mutation status or tumor size.
- Published in:
- International Journal of Cancer, 2012, v. 131, n. 3, p. 766, doi. 10.1002/ijc.26425
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- Publication type:
- Article
Trimethylamine-N-Oxide Levels Are Similar in Asymptomatic vs. Symptomatic Cerebrovascular Atherosclerosis.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.617944
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- Publication type:
- Article
<sup>1</sup>H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy.
- Published in:
- 2021
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- Publication type:
- journal article