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Evaluation of the 25-hydroxy vitamin D assay on a fully automated liquid chromatography mass spectrometry system, the Thermo Scientific Cascadion SM Clinical Analyzer with the Cascadion 25-hydroxy vitamin D assay in a routine clinical laboratory.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2020, v. 58, n. 6, p. 1010, doi. 10.1515/cclm-2019-0834
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- Publication type:
- Article
Serum concentrations and urinary excretion of homogentisic acid and tyrosine in normal subjects.
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- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 3, p. e81, doi. 10.1515/cclm-2014-0668
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- Publication type:
- Article
On a non-symmetrical plane strain deformation for hyperelastic materials.
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- IMA Journal of Applied Mathematics, 2001, v. 66, n. 3, doi. 10.1093/imamat/66.3.285
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- Publication type:
- Article
Nitisinone causes acquired tyrosinosis in alkaptonuria.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1014, doi. 10.1002/jimd.12229
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- Publication type:
- Article
Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 737, doi. 10.1002/jimd.12181
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- Publication type:
- Article
Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia associated with nitisinone therapy of alkaptonuria.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 259, doi. 10.1002/jimd.12172
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- Publication type:
- Article
A Comprehensive LC-QTOF-MS Metabolic Phenotyping Strategy: Application to Alkaptonuria.
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- Clinical Chemistry, 2019, v. 65, n. 4, p. 530, doi. 10.1373/clinchem.2018.295345
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- Publication type:
- Article
Increased prevalence of Parkinson's disease in alkaptonuria.
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- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 4, p. 282, doi. 10.1002/jmd2.12367
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- Publication type:
- Article
Method development and validation for analysis of phenylalanine, 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid in serum and urine.
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 4, p. 341, doi. 10.1002/jmd2.12287
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- Publication type:
- Article
Comparing nitisinone 2 mg and 10 mg in the treatment of alkaptonuria—An approach using statistical modelling.
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- Journal of Inherited Metabolic Disease Reports, 2022, v. 63, n. 1, p. 80, doi. 10.1002/jmd2.12261
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- Publication type:
- Article
Reversal of ochronotic pigmentation in alkaptonuria following nitisinone therapy: Analysis of data from the United Kingdom National Alkaptonuria Centre.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 75, doi. 10.1002/jmd2.12137
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- Publication type:
- Article
The nutritional status of people with alkaptonuria: An exploratory analysis suggests a protein/energy dilemma.
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- Journal of Inherited Metabolic Disease Reports, 2020, v. 53, n. 1, p. 45, doi. 10.1002/jmd2.12084
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- Publication type:
- Article
Evaluation of the serum metabolome of patients with alkaptonuria before and after two years of treatment with nitisinone using LC-QTOF-MS.
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- Journal of Inherited Metabolic Disease Reports, 2019, v. 48, n. 1, p. 67, doi. 10.1002/jmd2.12042
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- Publication type:
- Article
Adsorption and interactions of dentine phosphoprotein with hydroxyapatite and collagen.
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- European Journal of Oral Sciences, 2006, v. 114, n. 3, p. 223, doi. 10.1111/j.1600-0722.2006.00347.x
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- Publication type:
- Article
The Consequences of Valproate Overdose.
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- Clinical Chemistry, 2011, v. 57, n. 9, p. 1233, doi. 10.1373/clinchem.2010.151225
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- Publication type:
- Article
Comprehensive Biotransformation Analysis of Phenylalanine-Tyrosine Metabolism Reveals Alternative Routes of Metabolite Clearance in Nitisinone-Treated Alkaptonuria.
- Published in:
- Metabolites (2218-1989), 2022, v. 12, n. 10, p. 927, doi. 10.3390/metabo12100927
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- Publication type:
- Article
Revisiting Quantification of Phenylalanine/Tyrosine Flux in the Ochronotic Pathway during Long-Term Nitisinone Treatment of Alkaptonuria.
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- Metabolites (2218-1989), 2022, v. 12, n. 10, p. 920, doi. 10.3390/metabo12100920
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- Publication type:
- Article
Comparing the Phenylalanine/Tyrosine Pathway and Related Factors between Keratopathy and No-Keratopathy Groups as Well as between Genders in Alkaptonuria during Nitisinone Treatment.
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- Metabolites (2218-1989), 2022, v. 12, n. 8, p. 772, doi. 10.3390/metabo12080772
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- Publication type:
- Article
Impact of Nitisinone on the Cerebrospinal Fluid Metabolome of a Murine Model of Alkaptonuria.
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- Metabolites (2218-1989), 2022, v. 12, n. 6, p. 477, doi. 10.3390/metabo12060477
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- Publication type:
- Article
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.
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- Human Molecular Genetics, 2019, v. 28, n. 23, p. 3928, doi. 10.1093/hmg/ddz234
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- Article
Liquid chromatography tandem mass spectrometry: challenges in introducing published methods into the clinical laboratory.
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- 2018
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- Publication type:
- letter
Development of a liquid chromatography tandem mass spectrometry method for the simultaneous measurement of voriconazole, posaconazole and itraconazole.
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- 2017
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- Publication type:
- journal article
The effect of nitisinone on homogentisic acid and tyrosine: a two-year survey of patients attending the National Alkaptonuria Centre, Liverpool.
- Published in:
- 2017
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- Publication type:
- journal article
The impact of calcium assay change on a local adjusted calcium equation.
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- 2016
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- Publication type:
- journal article
Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.
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- 2015
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- Publication type:
- Journal Article
Serum markers in alkaptonuria: simultaneous analysis of homogentisic acid, tyrosine and nitisinone by liquid chromatography tandem mass spectrometry.
- Published in:
- Annals of Clinical Biochemistry, 2015, v. 52, n. 5, p. 597, doi. 10.1177/0004563215571969
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- Publication type:
- Article