Detalhe da pesquisa
1.
Isolated aortic root dilation in homocystinuria.
J Inherit Metab Dis
; 41(1): 109-115, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28980096
2.
Isolation of human genomic DNA for genetic analysis from premature neonates: a comparison between newborn dried blood spots, whole blood and umbilical cord tissue.
BMC Genet
; 14: 105, 2013 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-24168095
3.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-36762708
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38248630
5.
In vitro placenta barrier model using primary human trophoblasts, underlying connective tissue and vascular endothelium.
Biomaterials
; 192: 140-148, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30448698
6.
Implementation of the newborn screening programme for sickle cell disease in England: results for 2003-2005.
J Med Screen
; 15(1): 9-13, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18416948
7.
Treating the placenta to prevent adverse effects of gestational hypoxia on fetal brain development.
Sci Rep
; 7(1): 9079, 2017 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28831049
8.
A "fussy eater" with renal failure.
Lancet
; 375(9715): 696, 2010 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20171405
9.
Secretions from placenta, after hypoxia/reoxygenation, can damage developing neurones of brain under experimental conditions.
Exp Neurol
; 261: 386-95, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24818543
10.
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
Eur J Hum Genet
; 19(5): 513-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21368916
11.
Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome.
Clin Chem
; 54(2): 371-8, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18070816