Found: 62
Select item for more details and to access through your institution.
Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
- Published in:
- 2016
- By:
- Publication type:
- journal article
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
- By:
- Publication type:
- Article
Indoxyl sulfate associates with cardiovascular phenotype in children with chronic kidney disease.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 12, p. 2571, doi. 10.1007/s00467-019-04331-6
- By:
- Publication type:
- Article
Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.
- Published in:
- Nutrients, 2023, v. 15, n. 15, p. 3355, doi. 10.3390/nu15153355
- By:
- 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.
- Published in:
- World Journal of Pediatrics, 2018, v. 14, n. 5, p. 470, doi. 10.1007/s12519-018-0159-1
- By:
- Publication type:
- Article
Newborn screening for remethylation disorders and vitamin B deficiency-evaluation of new strategies in cohorts from Qatar and Germany.
- Published in:
- World Journal of Pediatrics, 2017, v. 13, n. 2, p. 136, doi. 10.1007/s12519-017-0003-z
- By:
- Publication type:
- Article
Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase.
- Published in:
- PLoS ONE, 2018, v. 13, n. 9, p. 1, doi. 10.1371/journal.pone.0203707
- By:
- 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
- By:
- 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.
- Published in:
- Journal of Neurochemistry, 2006, v. 97, n. 3, p. 899, doi. 10.1111/j.1471-4159.2006.03813.x
- By:
- 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.
- Published in:
- Cardiovascular Diabetology, 2024, v. 23, n. 1, p. 1, doi. 10.1186/s12933-024-02398-6
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Enzymatic assay for quantitative analysis of ( d)-2-hydroxyglutarate.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 6, p. 883, doi. 10.1007/s00401-012-1060-y
- By:
- Publication type:
- Article
Fasting-induced liver GADD45β restrains hepatic fatty acid uptake and improves metabolic health.
- Published in:
- EMBO Molecular Medicine, 2016, v. 8, n. 6, p. 654, doi. 10.15252/emmm.201505801
- By:
- Publication type:
- Article
Calorie restriction improves metabolic state independently of gut microbiome composition: a randomized dietary intervention trial.
- Published in:
- Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01030-0
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
A vaccine targeting mutant IDH1 induces antitumour immunity.
- Published in:
- Nature, 2014, v. 512, n. 7514, p. 324, doi. 10.1038/nature13387
- By:
- Publication type:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Serum indoxyl sulfate concentrations associate with progression of chronic kidney disease in children.
- Published in:
- PLoS ONE, 2020, v. 15, n. 10, p. 1, doi. 10.1371/journal.pone.0240446
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 1, p. 81, doi. 10.1007/s10545-017-0097-4
- By:
- Publication type:
- Article
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 75, doi. 10.1007/s10545-016-9999-9
- By:
- Publication type:
- Article
Genetic cause and prevalence of hydroxyprolinemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 625, doi. 10.1007/s10545-016-9940-2
- By:
- Publication type:
- Article
Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 2, p. 265, doi. 10.1007/s10545-014-9762-z
- By:
- Publication type:
- Article
Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 4, p. 635, doi. 10.1007/s10545-013-9600-8
- By:
- Publication type:
- Article
Diagnosis and management of glutaric aciduria type I - revised recommendations.
- Published in:
- Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 677, doi. 10.1007/s10545-011-9289-5
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 6, p. 697, doi. 10.1007/s10545-010-9164-9
- By:
- Publication type:
- Article
Erratum to: Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values.
- Published in:
- 2010
- By:
- Publication type:
- Correction notice
Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 1, p. 114, doi. 10.1002/jmd2.12345
- By:
- 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
- By:
- Publication type:
- Article
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 59, doi. 10.1002/jmd2.12130
- By:
- Publication type:
- Article
Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis.
- Published in:
- Communications Biology, 2020, v. 3, n. 1, p. N.PAG, doi. 10.1038/s42003-020-01442-x
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article