Works by Berger, Ruud
Results: 40
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
- Published in:
- Cellular & Molecular Life Sciences, 2012, v. 69, n. 1, p. 149, doi. 10.1007/s00018-011-0743-1
- By:
- Publication type:
- Article
Mutation analysis for prenatal diagnosis of hereditary tyrosinaemia type 1.
- Published in:
- Prenatal Diagnosis, 1997, v. 17, n. 10, p. 964, doi. 10.1002/(SICI)1097-0223(199710)17:10<964::AID-PD164>3.0.CO;2-6
- By:
- Publication type:
- Article
Fumarylacetoacetase mutations in tyrosinaemia type I.
- Published in:
- Human Mutation, 1996, v. 7, n. 3, p. 239, doi. 10.1002/(SICI)1098-1004(1996)7:3<239::AID-HUMU8>3.0.CO;2-5
- By:
- Publication type:
- Article
Metabolic characterization of the natural progression of chronic hepatitis B.
- Published in:
- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0318-8
- By:
- Publication type:
- Article
Assessing the metabolic effects of prednisolone in healthy volunteers using urine metabolic profiling.
- Published in:
- Genome Medicine, 2012, v. 4, n. 11, p. 1, doi. 10.1186/gm395
- By:
- Publication type:
- Article
Hypertriglyceridemia in patients with chronic renal failure: Possible mechanisms.
- Published in:
- Kidney International, 2003, v. 63, p. S121, doi. 10.1046/j.1523-1755.63.s84.34.x
- By:
- Publication type:
- Article
Homocysteine and methionine metabolism in ESRD: A stable isotope study.
- Published in:
- Kidney International, 1999, v. 56, n. 3, p. 1064, doi. 10.1046/j.1523-1755.1999.00624.x
- By:
- Publication type:
- Article
Fetal Metabolic Stress Disrupts Immune Homeostasis and Induces Proinflammatory Responses in Human Immunodeficiency Virus Type 1- and Combination Antiretroviral Therapy-Exposed Infants.
- Published in:
- 2017
- By:
- Publication type:
- journal article
The serine/threonine phosphatase PPM1B (PP2Cß) selectively modulates PPARγ activity.
- Published in:
- Biochemical Journal, 2013, v. 451, n. 1, p. 45, doi. 10.1042/BJ20121113
- By:
- Publication type:
- Article
Early adipogenesis is regulated through USP7-mediated deubiquitination of the histone acetyltransferase TIP60.
- Published in:
- Nature Communications, 2013, v. 4, n. 10, p. 2656, doi. 10.1038/ncomms3656
- By:
- Publication type:
- Article
Reply.
- Published in:
- Annals of Neurology, 2009, v. 65, n. 4, p. 484, doi. 10.1002/ana.21701
- By:
- Publication type:
- Article
Yield of additional metabolic studies in neurodevelopmental disorders.
- Published in:
- Annals of Neurology, 2008, v. 64, n. 2, p. 212, doi. 10.1002/ana.21435
- By:
- Publication type:
- Article
D‐serine in the developing human central nervous system.
- Published in:
- Annals of Neurology, 2006, v. 60, n. 4, p. 476
- By:
- Publication type:
- Article
Global profiling of the muscle metabolome: method optimization, validation and application to determine exercise-induced metabolic effects.
- Published in:
- Metabolomics, 2015, v. 11, n. 2, p. 271, doi. 10.1007/s11306-014-0701-7
- By:
- Publication type:
- Article
Rapid metabolic screening of early zebrafish embryogenesis based on direct infusion-nanoESI-FTMS.
- Published in:
- Metabolomics, 2013, v. 9, n. 4, p. 864, doi. 10.1007/s11306-012-0493-6
- By:
- Publication type:
- Article
Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Quantification of in vivo oxidative damage in Caenorhabditis elegans during aging by endogenous F3-isoprostane measurement.
- Published in:
- Aging Cell, 2013, v. 12, n. 2, p. 214, doi. 10.1111/acel.12043
- By:
- Publication type:
- Article
X-linked liver glycogenosis: localization and isolation of a candidate gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 5, p. 583
- By:
- Publication type:
- Article
Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency.
- Published in:
- 2000
- By:
- Publication type:
- Case Study
Insulin-like growth factors and leucine kinetics during exercise training in children with cystic fibrosis.
- Published in:
- 2001
- By:
- Publication type:
- journal article
P18 is a tumor suppressor gene involved in human medullary thyroid carcinoma and pheochromocytoma development.
- Published in:
- International Journal of Cancer, 2009, v. 124, n. 2, p. 339, doi. 10.1002/ijc.23977
- By:
- Publication type:
- Article
Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1.
- Published in:
- Kidney International, 2004, v. 66, n. 3, p. 990, doi. 10.1111/j.1523-1755.2004.00788.x
- By:
- Publication type:
- Article
DIALYSIS - TRANSPLANTATION A broad-based metabolic approach to study VLDL apoB100 metabolism in patients with ESRD and patients treated with peritoneal dialysis.
- Published in:
- Kidney International, 2004, v. 65, n. 3, p. 1064, doi. 10.1111/j.1523-1755.2004.00466.x
- By:
- Publication type:
- Article
Increased albumin and fibrinogen synthesis rate in patients with chronic renal failure.
- Published in:
- Kidney International, 2003, v. 64, n. 4, p. 1495, doi. 10.1046/j.1523-1755.2003.00211.x
- By:
- Publication type:
- Article
Collagen Induced Arthritis in DBA/1J Mice Associates with Oxylipin Changes in Plasma.
- Published in:
- Mediators of Inflammation, 2015, v. 2015, p. 1, doi. 10.1155/2015/543541
- By:
- Publication type:
- Article
Development and application of a UHPLC-MS/MS metabolomics based comprehensive systemic and tissue-specific screening method for inflammatory, oxidative and nitrosative stress.
- Published in:
- Analytical & Bioanalytical Chemistry, 2018, v. 410, n. 10, p. 2551, doi. 10.1007/s00216-018-0912-2
- By:
- Publication type:
- Article
Metabolomics profiling of the free and total oxidised lipids in urine by LC-MS/MS: application in patients with rheumatoid arthritis.
- Published in:
- Analytical & Bioanalytical Chemistry, 2016, v. 408, n. 23, p. 6307, doi. 10.1007/s00216-016-9742-2
- By:
- Publication type:
- Article
Quantitative profiling of oxylipins through comprehensive LC-MS/MS analysis: application in cardiac surgery.
- Published in:
- Analytical & Bioanalytical Chemistry, 2012, v. 404, n. 5, p. 1413, doi. 10.1007/s00216-012-6226-x
- By:
- Publication type:
- Article
Role of amino acids in rheumatoid arthritis studied by metabolomics.
- Published in:
- International Journal of Rheumatic Diseases, 2019, v. 22, n. 1, p. 38, doi. 10.1111/1756-185X.13062
- By:
- Publication type:
- Article
Increased concentrations of both NMDA receptor co-agonists d-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxia.
- Published in:
- Amino Acids, 2012, v. 43, n. 1, p. 355, doi. 10.1007/s00726-011-1086-9
- By:
- Publication type:
- Article
Discovery of biochemical biomarkers for aggression: A role for metabolomics in psychiatry.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 5, p. 719, doi. 10.1002/ajmg.b.32435
- By:
- Publication type:
- Article
Hypertriglyceridemia in patients with chronic renal failure: Possible mechanisms.
- Published in:
- Kidney International Supplement, 2003, n. 84, p. 121, doi. 10.1046/j.1523-1755.63.s84.34.x
- By:
- Publication type:
- Article
Metabolomics Profiling for Identification of Novel Potential Markers in Early Prediction of Preeclampsia.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0098540
- By:
- Publication type:
- Article
Allele Compensation in Tip60<sup>+/−</sup> Mice Rescues White Adipose Tissue Function <i>In Vivo</i>.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0098343
- By:
- Publication type:
- Article
The Copper Metabolism MURR1 Domain Protein 1 (COMMD1) Modulates the Aggregation of Misfolded Protein Species in a Client-Specific Manner.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0092408
- By:
- Publication type:
- Article
A Protocol for Quantifying Lipid Peroxidation in Cellular Systems by F2-Isoprostane Analysis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0080935
- By:
- Publication type:
- Article
PPARγ Regulates Expression of Carbohydrate Sulfotransferase 11 (<i>CHST11/C4ST1</i>), a Regulator of LPL Cell Surface Binding
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0064284
- By:
- Publication type:
- Article
A Novel RNAi Lethality Rescue Screen to Identify Regulators of Adipogenesis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. e37680, doi. 10.1371/journal.pone.0037680
- By:
- Publication type:
- Article
Liver-Specific Commd1 Knockout Mice Are Susceptible to Hepatic Copper Accumulation.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029183
- By:
- Publication type:
- Article
Simplivariate Models: Ideas and First Examples.
- Published in:
- PLoS ONE, 2008, v. 3, n. 9, p. 1, doi. 10.1371/journal.pone.0003259
- By:
- Publication type:
- Article