Detalles de la búsqueda
1.
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations.
Mol Genet Metab
; 142(1): 108455, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38531184
2.
Interventions for Behaviour Change and Self-Management of Risk in Stroke Secondary Prevention: An Overview of Reviews.
Cerebrovasc Dis
; 53(1): 1-13, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-37231867
3.
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Am J Med Genet A
; 191(6): 1492-1501, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36883293
4.
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.
Am J Med Genet C Semin Med Genet
; 190(2): 178-186, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36097743
5.
Systematic Review of Pooling Sputum as an Efficient Method for Xpert MTB/RIF Tuberculosis Testing during the COVID-19 Pandemic.
Emerg Infect Dis
; 27(3): 719-727, 2021 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33622482
6.
Increased parental anxiety and a benign clinical course: Infants identified with short-chain acyl-CoA dehydrogenase deficiency and isobutyryl-CoA dehydrogenase deficiency through newborn screening in Georgia.
Mol Genet Metab
; 129(1): 20-25, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31813752
7.
The Impact of Cognitive Impairment on Poststroke Outcomes: A 5-Year Follow-Up.
J Geriatr Psychiatry Neurol
; 32(5): 275-281, 2019 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-31167593
8.
Implementation of an acute DVT ambulatory care pathway in a large urban centre: current challenges and future opportunities.
Thromb J
; 17: 14, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31333332
9.
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease.
Genet Med
; 20(8): 840-846, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-29095812
10.
Identification of Decreased Butyrylcholinesterase in Sudden Infant Death Syndrome Is, at Best, a First Step Toward Preventive Screening.
Clin Chem
; 69(2): 116-117, 2023 02 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36327422
11.
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency.
Mol Genet Metab
; 124(1): 82-86, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29550355
12.
Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.
Mol Genet Metab
; 123(4): 428-432, 2018 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-29510902
13.
Cognitive Impairment, Vulnerability, and Mortality Post Ischemic Stroke: A Five-Year Follow-Up of the Action on Secondary Prevention Interventions and Rehabilitation in Stroke (ASPIRE-S) Cohort.
J Stroke Cerebrovasc Dis
; 27(9): 2466-2473, 2018 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-29803601
14.
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Am J Hum Genet
; 95(1): 96-107, 2014 Jul 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-24931394
15.
Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Genet Med
; 19(1): 77-82, 2017 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27308838
16.
'Betwixt and between health and illness' - women's narratives following acute coronary syndrome.
J Clin Nurs
; 26(21-22): 3457-3470, 2017 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-28054410
17.
Access to Rehabilitation at Six Months Post Stroke: A Profile from the Action on Secondary Prevention Interventions and Rehabilitation in Stroke (ASPIRE-S) Study.
Cerebrovasc Dis
; 42(3-4): 247-54, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27189709
18.
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.
Clin Chem
; 61(5): 760-8, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25759465
19.
Cognitive impairment six months after ischaemic stroke: a profile from the ASPIRE-S study.
BMC Neurol
; 15: 31, 2015 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-25879880
20.
Secondary prevention after ischaemic stroke: the ASPIRE-S study.
BMC Neurol
; 15: 216, 2015 Oct 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-26492943