Detalles de la búsqueda
1.
COVID-19 Vaccine Response in People with Multiple Sclerosis.
Ann Neurol
; 91(1): 89-100, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34687063
2.
Risk of COVID-19 in people with multiple sclerosis who are seronegative following vaccination.
Mult Scler
; 29(8): 979-989, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37431627
3.
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.
Clin Chem
; 68(8): 1075-1083, 2022 07 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-35699503
4.
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
J Inherit Metab Dis
; 45(4): 819-831, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35403730
5.
Plasma Methylmalonic Acid Concentration in Folic Acid-Supplemented Depressed Patients with Low or Marginal Vitamin B-12: A Randomized Trial.
J Nutr
; 151(12): 3738-3745, 2021 12 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34510193
6.
Performance of laboratory tests used to measure blood phenylalanine for the monitoring of patients with phenylketonuria.
J Inherit Metab Dis
; 43(2): 179-188, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31433494
7.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
J Inherit Metab Dis
; 42(1): 128-139, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30740731
8.
Characterization of a Blood Spot Creatine Kinase Skeletal Muscle Isoform Immunoassay for High-Throughput Newborn Screening of Duchenne Muscular Dystrophy.
Clin Chem
; 63(4): 908-914, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-28209627
9.
Effect of Dried Blood Spot Quality on Newborn Screening Analyte Concentrations and Recommendations for Minimum Acceptance Criteria for Sample Analysis.
Clin Chem
; 62(3): 466-75, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26647314
10.
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.
Clin Chem
; 60(2): 373-80, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24158758
11.
Neonatal blood TSH concentration in Wales (UK): an indicator of iodine sufficiency.
Clin Endocrinol (Oxf)
; 81(4): 606-9, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24801193
12.
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.
Int J Neonatal Screen
; 10(1)2024 Mar 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-38535128
13.
A vitamin B-12 supplement of 500 µg/d for eight weeks does not normalize urinary methylmalonic acid or other biomarkers of vitamin B-12 status in elderly people with moderately poor vitamin B-12 status.
J Nutr
; 143(2): 142-7, 2013 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-23236022
14.
A computer vision approach to the assessment of dried blood spot size and quality in newborn screening.
Clin Chim Acta
; 547: 117418, 2023 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37276944
15.
Transcobalamin receptor gene polymorphisms and mutation in an elderly population.
Clin Nutr ESPEN
; 55: 425-427, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-37202078
16.
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.
Int J Neonatal Screen
; 9(1)2023 Mar 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-36975853
17.
Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices.
JIMD Rep
; 64(6): 468-476, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37927487
18.
Cross-sectional audit assessing the quality of dried bloodspot specimens received by UK metabolic biochemistry laboratories for the biochemical monitoring of individuals with Phenylketonuria.
Ann Clin Biochem
; 60(3): 208-211, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36762708
19.
Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen.
Int J Neonatal Screen
; 9(3)2023 Sep 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-37754778
20.
Incidental Detection of Classical Galactosemia through Newborn Screening for Phenylketonuria: A 10-Year Retrospective Audit to Determine the Efficacy of This Approach.
Int J Neonatal Screen
; 10(1)2023 Dec 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38248630