Found: 26
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Statins and micronutrients: unanswered questions.
- Published in:
- 2004
- By:
- Publication type:
- commentary
Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK).
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1049, doi. 10.1038/ejhg.2012.301
- By:
- Publication type:
- Article
Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2023, v. 64, n. 6, p. 468, doi. 10.1002/jmd2.12398
- By:
- Publication type:
- Article
Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs.
- Published in:
- JAMA Neurology, 2016, v. 73, n. 1, p. 111, doi. 10.1001/jamaneurol.2015.3537
- By:
- Publication type:
- Article
Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria.
- Published in:
- Annals of Clinical Biochemistry, 2023, v. 60, n. 3, p. 208, doi. 10.1177/00045632231156035
- By:
- Publication type:
- Article
Development of a high-throughput SARS-CoV-2 antibody testing pathway using dried blood spot specimens.
- Published in:
- Annals of Clinical Biochemistry, 2021, v. 58, n. 2, p. 123, doi. 10.1177/0004563220981106
- By:
- Publication type:
- Article
Newborn screening for sickle cell disorders using tandem mass spectrometry: three years' experience of using a protocol to detect only the disease states.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Transient congenital hypothyroidism due to thyroid-stimulating hormone receptor blocking antibodies: a case series.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Plasma total homocysteine: instigator or indicator of cardiovascular disease?
- Published in:
- Annals of Clinical Biochemistry, 2008, v. 45, n. 4, p. 345, doi. 10.1258/acb.2008.008053
- By:
- Publication type:
- Article
A missense mutation in the murine Opa3 gene models human Costeff syndrome.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 2, p. 368, doi. 10.1093/brain/awm333
- By:
- Publication type:
- Article
HOMOCYSTEINE IN HEALTH AND DISEASE.
- Published in:
- Brain: A Journal of Neurology, 2002, v. 125, n. 3, p. 682, doi. 10.1093/brain/awf065
- By:
- Publication type:
- Article
Improving Harmonization and Standardization of Expanded Newborn Screening Results by Optimization of the Legacy Flow Injection Analysis Tandem Mass Spectrometry Methods and Application of a Standardized Calibration Approach.
- Published in:
- Clinical Chemistry, 2022, v. 68, n. 8, p. 1075, doi. 10.1093/clinchem/hvac070
- By:
- Publication type:
- Article
Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy.
- Published in:
- Clinical Chemistry, 2017, v. 63, n. 4, p. 908, doi. 10.1373/clinchem.2016.268425
- By:
- Publication type:
- Article
Effect of Dried Blood Spot Quality on Newborn Screening Analyte Concentrations and Recommendations for Minimum Acceptance Criteria for Sample Analysis.
- Published in:
- Clinical Chemistry, 2016, v. 62, n. 3, p. 466, doi. 10.1373/clinchem.2015.247668
- By:
- Publication type:
- Article
Newborn Blood Spot Screening for Sickle Cell Disease by Using Tandem Mass Spectrometry: Implementation of a Protocol to Identify Only the Disease States of Sickle Cell Disease.
- Published in:
- Clinical Chemistry, 2014, v. 60, n. 2, p. 373, doi. 10.1373/clinchem.2013.210948
- By:
- Publication type:
- Article
COVID‐19 Vaccine Response in People with Multiple Sclerosis.
- Published in:
- Annals of Neurology, 2022, v. 91, n. 1, p. 89, doi. 10.1002/ana.26251
- By:
- Publication type:
- Article
Thermo‐sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 819, doi. 10.1002/jimd.12503
- By:
- Publication type:
- Article
Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 179, doi. 10.1002/jimd.12163
- By:
- Publication type:
- Article
An indirect response model of homocysteine suppression by betaine: optimising the dosage regimen of betaine in homocystinuria.
- Published in:
- British Journal of Clinical Pharmacology, 2002, v. 54, n. 2, p. 140, doi. 10.1046/j.1365-2125.2002.01620.x
- By:
- Publication type:
- Article
Consistency in the Assessment of Dried Blood Spot Specimen Size and Quality in U.K. Newborn Screening Laboratories.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 3, p. 60, doi. 10.3390/ijns10030060
- By:
- Publication type:
- Article
Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 24, doi. 10.3390/ijns10010024
- By:
- Publication type:
- Article
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 2, doi. 10.3390/ijns10010002
- By:
- Publication type:
- Article
Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 3, p. 52, doi. 10.3390/ijns9030052
- By:
- Publication type:
- Article
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 1, p. 15, doi. 10.3390/ijns9010015
- By:
- Publication type:
- Article
Risk of COVID-19 in people with multiple sclerosis who are seronegative following vaccination.
- Published in:
- Multiple Sclerosis Journal, 2023, v. 29, n. 8, p. 979, doi. 10.1177/13524585231185247
- By:
- Publication type:
- Article
Neonatal blood TSH concentration in Wales ( UK): an indicator of iodine sufficiency.
- Published in:
- Clinical Endocrinology, 2014, v. 81, n. 4, p. 606, doi. 10.1111/cen.12474
- By:
- Publication type:
- Article