Works matching DE "TYROSINEMIA"
Results: 52
Tyrosine impairs enzymes of energy metabolism in cerebral cortex of rats.
- Published in:
- Molecular & Cellular Biochemistry, 2012, v. 364, n. 1/2, p. 253, doi. 10.1007/s11010-012-1225-y
- By:
- Publication type:
- Article
Nitisinone-Induced Keratopathy in Alkaptonuria Disease: A Case Report and Literature Review.
- Published in:
- Journal of Clinical & Diagnostic Research, 2018, v. 12, n. 6, p. 1, doi. 10.7860/JCDR/2018/35741.11629
- By:
- Publication type:
- Article
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
Technology: In vivo correction of genetic disease in adult mice.
- Published in:
- Nature Reviews Genetics, 2014, v. 15, n. 5, p. 291, doi. 10.1038/nrg3731
- By:
- Publication type:
- Article
Clinical and Para Clinical Findings in the Children with Tyrosinemia Referring for Liver Transplantation.
- Published in:
- International Journal of Preventive Medicine, 2013, v. 4, n. 12, p. 1380
- By:
- Publication type:
- Article
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 3, p. 306, doi. 10.1111/cge.13003
- By:
- Publication type:
- Article
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
- Published in:
- Clinical Genetics, 2014, v. 86, n. 2, p. 167, doi. 10.1111/cge.12243
- By:
- Publication type:
- Article
Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.
- Published in:
- PLoS ONE, 2017, v. 12, n. 9, p. 1, doi. 10.1371/journal.pone.0185342
- By:
- Publication type:
- Article
Detection of other inborn errors of metabolism in hyperphenylalaninemic babies picked up on narrow-spectrum screening programs.
- Published in:
- Turkish Journal of Pediatrics, 2012, v. 54, n. 4, p. 409, doi. 10.24953/turkjped.2012.1657
- By:
- Publication type:
- Article
Richner-Hanhart syndrome (tyrosinemia type II): a case report of delayed diagnosis with pseudodendritic corneal lesion.
- Published in:
- Turkish Journal of Pediatrics, 2011, v. 53, n. 6, p. 692
- By:
- Publication type:
- Article
Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing.
- Published in:
- Fetal & Pediatric Pathology, 2016, v. 35, n. 4, p. 282, doi. 10.3109/15513815.2016.1167149
- By:
- Publication type:
- Article
3D Pharmacophore-Based Virtual Screening and Docking Approaches toward the Discovery of Novel HPPD Inhibitors.
- Published in:
- Molecules, 2017, v. 22, n. 6, p. 959, doi. 10.3390/molecules22060959
- By:
- Publication type:
- Article
Abnormal social behavior in mice with tyrosinemia type I is associated with an increase of myelin in the cerebral cortex.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 6, p. 1829, doi. 10.1007/s11011-017-0071-8
- By:
- Publication type:
- Article
Omega-3 fatty acid supplementation decreases DNA damage in brain of rats subjected to a chemically induced chronic model of Tyrosinemia type II.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 4, p. 1043, doi. 10.1007/s11011-017-9994-3
- By:
- Publication type:
- Article
Antioxidants reverse the changes in energy metabolism of rat brain after chronic administration of L.-tyrosine.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 2, p. 557, doi. 10.1007/s11011-016-9936-5
- By:
- Publication type:
- Article
Tyrosinemia type 1 and irreversible neurologic crisis after one month discontinuation of nitisone.
- Published in:
- Metabolic Brain Disease, 2016, v. 31, n. 5, p. 1181, doi. 10.1007/s11011-016-9833-y
- By:
- Publication type:
- Article
The characterization of neuroenergetic effects of chronic L-tyrosine administration in young rats: evidence for striatal susceptibility.
- Published in:
- Metabolic Brain Disease, 2015, v. 30, n. 1, p. 215, doi. 10.1007/s11011-014-9615-3
- By:
- Publication type:
- Article
Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification.
- Published in:
- Indian Journal of Dermatology, Venereology & Leprology, 2015, v. 81, n. 3, p. 303, doi. 10.4103/0378-6323.152744
- By:
- Publication type:
- Article
MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients.
- Published in:
- Molecular Biology Reports, 2013, v. 40, n. 7, p. 4619, doi. 10.1007/s11033-013-2555-x
- By:
- Publication type:
- Article
Behavioral and intellectual functioning in patients with tyrosinemia type I.
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2012, v. 18, n. 3, p. 96
- By:
- Publication type:
- Article
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Neurocognitive outcome in tyrosinemia type 1 patients compared to healthy controls.
- Published in:
- 2016
- By:
- Publication type:
- journal article
A robust bacterial assay for high-throughput screening of human 4-hydroxyphenylpyruvate dioxygenase inhibitors.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-50533-1
- By:
- Publication type:
- Article
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1.
- Published in:
- Science Translational Medicine, 2016, v. 8, n. 349, p. 1, doi. 10.1126/scitranslmed.aaf3838
- By:
- Publication type:
- Article
Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).
- Published in:
- Application of Clinical Genetics, 2017, v. 10, p. 43, doi. 10.2147/TACG.S113310
- By:
- Publication type:
- Article
Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype.
- Published in:
- Nature Biotechnology, 2014, v. 32, n. 6, p. 551, doi. 10.1038/nbt.2884
- By:
- Publication type:
- Article
Sustained NRF2 activation in hereditary leiomyomatosis and renal cell cancer (HLRCC) and in hereditary tyrosinemia type 1 (HT1).
- Published in:
- Biochemical Society Transactions, 2015, v. 43, n. 4, p. 650, doi. 10.1042/BST20150041
- By:
- Publication type:
- Article
Role of antioxidant treatment on DNA and lipid damage in the brain of rats subjected to a chemically induced chronic model of tyrosinemia type II.
- Published in:
- Molecular & Cellular Biochemistry, 2017, v. 435, n. 1/2, p. 207, doi. 10.1007/s11010-017-3070-5
- By:
- Publication type:
- Article
Antioxidants Reverse the Changes in the Cholinergic System Caused by L-Tyrosine Administration in Rats.
- Published in:
- Neurotoxicity Research, 2018, v. 34, n. 4, p. 769, doi. 10.1007/s12640-018-9866-6
- By:
- Publication type:
- Article
Structure of tyrosine aminotransferase from Leishmania infantum.
- Published in:
- Acta Crystallographica: Section F, Structural Biology Communications, 2014, v. 70, n. 5, p. 583, doi. 10.1107/S2053230X14007845
- By:
- Publication type:
- Article
Insights into HIV-1 proviral transcription from integrative structure and dynamics of the Tat:AFF4:P-TEFb:TAR complex.
- Published in:
- eLife, 2016, p. 1, doi. 10.7554/eLife.15910
- By:
- Publication type:
- Article
Identification of Novel Mutations in FAH Gene and Prenatal Diagnosis of Tyrosinemia in Indian Family.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/428075
- By:
- Publication type:
- Article
Simple and Fast Quantification of Nitisone (NTBC) using Liquid Chromatography–Tandem Mass Spectrometry Method in Plasma of Tyrosinemia Type 1 Patients.
- Published in:
- Journal of Chromatographic Science, 2012, v. 50, n. 5, p. 446, doi. 10.1093/chromsci/bms022
- By:
- Publication type:
- Article
Renewable Surface Carbon-composite Electrode Bulk Modified with GQD-RuCl<sub>3</sub> Nano-composite for High Sensitive Detection of l-tyrosine.
- Published in:
- Electroanalysis, 2016, v. 28, n. 10, p. 2559, doi. 10.1002/elan.201600010
- By:
- Publication type:
- Article
Rosmarinic Acid Production and Expression of Tyrosine Aminotransferase Gene in Melissa officinalis Seedlings in Response to Yeast Extract.
- Published in:
- Journal of Agricultural Science & Technology, 2014, v. 16, n. 4, p. 921
- By:
- Publication type:
- Article
l-Tyrosine Induces DNA Damage in Brain and Blood of Rats.
- Published in:
- Neurochemical Research, 2014, v. 39, n. 1, p. 202, doi. 10.1007/s11064-013-1207-9
- By:
- Publication type:
- Article
Effect of Acute Administration of l-Tyrosine on Oxidative Stress Parameters in Brain of Young Rats.
- Published in:
- Neurochemical Research, 2013, v. 38, n. 12, p. 2625, doi. 10.1007/s11064-013-1180-3
- By:
- Publication type:
- Article
Effect of Acute and Chronic Administration of l-Tyrosine on Nerve Growth Factor Levels in Rat Brain.
- Published in:
- Neurochemical Research, 2013, v. 38, n. 8, p. 1742, doi. 10.1007/s11064-013-1078-0
- By:
- Publication type:
- Article
Predicting tyrosinaemia: a mathematical model of 4-hydroxyphenylpyruvate dioxygenase inhibition by nitisinone in rats.
- Published in:
- Mathematical Medicine & Biology: A Journal of the IMA, 2017, v. 34, n. 3, p. 335, doi. 10.1093/imammb/dqw006
- By:
- Publication type:
- Article
Hereditary Tyrosinemia Type I, Presentation in a Two Month Old.
- Published in:
- Annals of Abbasi Shaheed Hospital & Karachi Medical & Dental College, 2016, v. 21, n. 2, p. 120
- By:
- Publication type:
- Article
HIV Tat Impairs Neurogenesis through Functioning As a Notch Ligand and Activation of Notch Signaling Pathway.
- Published in:
- Journal of Neuroscience, 2016, v. 36, n. 44, p. 11362, doi. 10.1523/JNEUROSCI.1208-16.2016
- By:
- Publication type:
- Article
Novel biomarkers for inborn errors of metabolism in the metabolomics era.
- Published in:
- Indian Journal of Biochemistry & Biophysics, 2018, v. 55, n. 5, p. 314
- By:
- Publication type:
- Article
Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Effect of Mifepristone on Glucocorticoid Receptor Gene Expression in the Liver of Rats with Streptozotocin-Induced Diabetes.
- Published in:
- Bulletin of Experimental Biology & Medicine, 2013, v. 156, n. 2, p. 177, doi. 10.1007/s10517-013-2304-0
- By:
- Publication type:
- Article
Mapping N- and C-terminals of Leishmania donovani tyrosine aminotransferase by gene truncation strategy: a functional study using in vitro and in silico approaches.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-69512-y
- By:
- Publication type:
- Article
Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.
- Published in:
- Cognitive Neuropsychology, 2018, v. 35, n. 3/4, p. 120, doi. 10.1080/02643294.2018.1443913
- By:
- Publication type:
- Article
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0159-8
- By:
- Publication type:
- Article
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0107-7
- By:
- Publication type:
- Article